Male Infertility Database

Search Result

Gene id

286

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

ANK1 Gene UCSC Ensembl

Aliases

ANK, SPH1, SPH2

Gene name

ankyrin 1

Alternate names

ankyrin-1, ANK-1, ankyrin 1, erythrocytic, ankyrin-R, erythrocyte ankyrin,

Gene location

8p11.21 (41896761: 41653224) Exons: 49 NC_000008.11

Gene summary(Entrez)

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane

OMIM

612641

SNPs

rs587777160

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.440344C>T
NC_000020.10   g.420988C>T
NG_034082.1   g.27210G>A
NM_144628.3   c.672G>A
NM_144628.4   c.672G>A
NM_144628.2   c.672G>A
NR_111901.1   n.820G>A
XM_006723540.3   c.486G>A
XM_005260661.1   c.672G>A
XM_017027645.1   c.486G>A
NP_653229.1   p.Trp224T

rs587777159

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.442029_442030del
NC_000020.10   g.422673_422674del
NG_034082.1   g.25525_25526del
NM_144628.3   c.352_353del
NM_144628.4   c.352_353del
NM_144628.2   c.352_353del
NR_111901.1   n.500_501del
XM_006723540.3   c.166_167del
XM_005260661.1   c.352_353del
X

rs587777158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.445095G>A
NC_000020.10   g.425739G>A
NG_034082.1   g.22459C>T
NM_144628.3   c.292C>T
NM_144628.4   c.292C>T
NM_144628.2   c.292C>T
NR_111901.1   n.440C>T
XM_006723540.3   c.106C>T
XM_005260661.1   c.292C>T
XM_017027645.1   c.106C>T
NP_653229.1   p.Gln98Te

rs587777157

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.447946G>A
NC_000020.10   g.428590G>A
NG_034082.1   g.19608C>T
NM_144628.3   c.199C>T
NM_144628.4   c.199C>T
NM_144628.2   c.199C>T
NR_111901.1   n.347C>T
XM_005260661.1   c.199C>T
NP_653229.1   p.Arg67Ter
XP_005260718.1   p.Arg67Ter|SEQ=[G/A]|GENE=TBC1D

rs11677854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48664148C>T
NC_000002.11   g.48891287C>T
NG_033050.2   g.139224C>T
NG_033050.1   g.139224C>T|SEQ=[C/T]|GENE=GTF2A1L
STON1-GTF2A1L   286749

rs12348

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.25677217T>C
NC_000009.12   g.25677217T>G
NC_000009.11   g.25677215T>C
NC_000009.11   g.25677215T>G
NG_012031.1   g.6642A>G
NG_012031.1   g.6642A>C
NM_001004125.2   c.*466A>G
NM_001004125.2   c.*466A>C|SEQ=[T/C/G]|GENE=TUSC1

rs7371084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48712814T>C
NC_000002.11   g.48939953T>C
NG_033050.2   g.187890T>C
NG_033050.1   g.187890T>C
NG_008193.2   g.47928A>G
NG_008193.1   g.47928A>G|SEQ=[T/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs68073206

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48721568A>C
NC_000002.11   g.48948707A>C
NG_033050.2   g.196644A>C
NG_033050.1   g.196644A>C
NG_008193.2   g.39174T>G
NG_008193.1   g.39174T>G|SEQ=[A/C]|GENE=LHCGR
STON1-GTF2A1L   286749

rs12470652

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694299T>C
NC_000002.11   g.48921438T>C
NG_033050.2   g.169375T>C
NG_033050.1   g.169375T>C
NG_008193.2   g.66443A>G
NG_008193.1   g.66443A>G
NM_000233.4   c.872A>G
NM_000233.3   c.872A>G
XM_005264309.3   c.-69A>G
XM_017004089.1   c.617A>G
XM_017004090

rs2293275

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48694236T>C
NC_000002.12   g.48694236T>G
NC_000002.11   g.48921375T>C
NC_000002.11   g.48921375T>G
NG_033050.2   g.169312T>C
NG_033050.2   g.169312T>G
NG_033050.1   g.169312T>C
NG_033050.1   g.169312T>G
NG_008193.2   g.66506A>G
NG_008193.2   g.66506A>C


rs4597581

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48731456A>G
NC_000002.11   g.48958595A>G
NG_033050.2   g.206532A>G
NG_033050.1   g.206532A>G
NG_008193.2   g.29286T>C
NG_008193.1   g.29286T>C|SEQ=[A/G]|GENE=LHCGR
STON1-GTF2A1L   286749

rs4953617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.48726070C>G
NC_000002.12   g.48726070C>T
NC_000002.11   g.48953209C>G
NC_000002.11   g.48953209C>T
NG_033050.2   g.201146C>G
NG_033050.2   g.201146C>T
NG_033050.1   g.201146C>G
NG_033050.1   g.201146C>T
NG_008193.2   g.34672G>C
NG_008193.2   g.34672G>A

Protein Summary

Protein general information

P16157

Name: Ankyrin 1 (ANK 1) (Ankyrin R) (Erythrocyte ankyrin)

Length: 1881 Mass: 206,265

Sequence

MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKMVVELLHKEIILETTT
KKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQENHLEVVKFLLENGANQNVATEDGFTPLAV
ALQQGHENVVAHLINYGTKGKVRLPALHIAARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLL
LNRGASVNFTPQNGITPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQA
KTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDKGAKPNSRALNGFTPL
HIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIVKNLLQRGASPNVSNVKVETPLHMAARAGHT
EVAKYLLQNKAKVNAKAKDDQTPLHCAARIGHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEK
EASQACMTKKGFTPLHVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAW
NGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQANGNLGNKSGLTPLHLV
AQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFLLQHQADVNAKTKLGYSPLHQAAQQGHTDIV
TLLLKNGASPNEVSSDGTTPLAIAKRLGYISVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELI
SFKAERRDSRDVDEEKELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSD
NISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLSTPPPLAEEEGLASRI
IALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEHRSRYGESYLDQILNGMDEELGSLEELEKKR
VCRIITTDFPLYFVIMSRLCQDYDTIGPEGGSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQ
ATFSPIVTVEPRRRKFHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANEC
ANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYCMTDDKVDKTLEQHEN
FVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRENRLAMPVKVRDSSREPGGSLSFLRKAMKYE
DTQHILCHLNITMPPCAKGSGAEDRRRTPTPLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELAREL
QFSVEDINRIRVENPNSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHT
DRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTMLEMSDMQVWSAGLTP
SLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLELVEDDTVDSDATNGLIDLLEQEEGQRSEEKL
PGSKRQDDATGAGQDSENEVSLVSGHQRGQARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEV
TQGPHSFQGTSTMTEGLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGN
EFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSELEVDIDYFMKHSKDH
TSTPNP

Structural information

Protein Domains	ZU5 (913-1068) ZU5 (1070-1216) Death. (1403-1487)
Interpro:	IPR002110 IPR020683 IPR036770 IPR011029 IPR000488 IPR000906
Prosite:	PS50297 PS50088 PS50017 PS51145
CDD:	cd00204
PDB:	1N11 2YQF 2YVI 3F59 3KBT 3KBU 3UD1 3UD2
PDBsum:	1N11 2YQF 2YVI 3F59 3KBT 3KBU 3UD1 3UD2
STRING:	ENSP00000265709

Other Databases

GeneCards: ANK1 Malacards: ANK1

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activ ity	NAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	NAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0006887	exocytosis	NAS	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	IDA	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological process
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0008093	cytoskeletal adaptor acti vity	TAS	molecular function
GO:0008093	cytoskeletal adaptor acti vity	IDA	molecular function
GO:0010638	positive regulation of or ganelle organization	IEA	biological process
GO:0014731	spectrin-associated cytos keleton	IDA	cellular component
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0019899	enzyme binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0030507	spectrin binding	IDA	molecular function
GO:0030507	spectrin binding	IPI	molecular function
GO:0030507	spectrin binding	NAS	molecular function
GO:0030673	axolemma	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0045199	maintenance of epithelial cell apical/basal polari ty	TAS	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0072661	protein targeting to plas ma membrane	IMP	biological process
GO:0005198	structural molecule activ ity	NAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	NAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0006887	exocytosis	NAS	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	IDA	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological process
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0008093	cytoskeletal adaptor acti vity	TAS	molecular function
GO:0008093	cytoskeletal adaptor acti vity	IDA	molecular function
GO:0010638	positive regulation of or ganelle organization	IEA	biological process
GO:0014731	spectrin-associated cytos keleton	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0019899	enzyme binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030018	Z disc	IEA	cellular component
GO:0030507	spectrin binding	IDA	molecular function
GO:0030507	spectrin binding	IPI	molecular function
GO:0030507	spectrin binding	NAS	molecular function
GO:0030673	axolemma	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0031672	A band	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0045199	maintenance of epithelial cell apical/basal polari ty	TAS	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0051117	ATPase binding	IPI	molecular function
GO:0072661	protein targeting to plas ma membrane	IMP	biological process
GO:0005198	structural molecule activ ity	NAS	molecular function
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	NAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0006887	exocytosis	NAS	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	IDA	biological process
GO:0006888	ER to Golgi vesicle-media ted transport	TAS	biological process
GO:0007010	cytoskeleton organization	NAS	biological process
GO:0008093	cytoskeletal adaptor acti vity	TAS	molecular function
GO:0008093	cytoskeletal adaptor acti vity	IDA	molecular function
GO:0014731	spectrin-associated cytos keleton	IDA	cellular component
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0019899	enzyme binding	TAS	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030507	spectrin binding	IDA	molecular function
GO:0030507	spectrin binding	IPI	molecular function
GO:0030507	spectrin binding	NAS	molecular function
GO:0045199	maintenance of epithelial cell apical/basal polari ty	TAS	biological process
GO:0051117	ATPase binding	IPI	molecular function
GO:0072661	protein targeting to plas ma membrane	IMP	biological process

KEGG pathways

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Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

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Associated diseases	References
Spherocytosis	GAD: 17128827
Spherocytosis	OMIM: 612641
Asthma	GAD: 22424883
Insulin resistance	GAD: 17903298
Diabetes	GAD: 22456796
Amyotrophic lateral sclerosis (ALS)	GAD: 18987618
Polycystic ovary syndrome (PCOS)	INFBASE: 22900502
Polycystic ovary syndrome (PCOS)	INFBASE: 17370102
Female infertility	INFBASE: 22900502
Female infertility	INFBASE: 17370102
Male subfertility	MIK: 27868003
Cryptorchidism	MIK: 28606200
Male subfertility	MIK: 27868003
Unexplained infertility	MIK: 25753583

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
27868003	Male subfe rtility, a utoimmunit y		Male infertility		Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
28606200	Cryptorchi dism	Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract
25753583	Unexplaine d infertil ity	46 (17 fertile men, 29 male pa tients)	Male infertility	Microarray	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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