Male Infertility Database

Search Result

Gene id

162

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

AP1B1 Gene UCSC Ensembl

Aliases

ADTB1, AP105A, BAM22, CLAPB2, KIDAR

Gene name

adaptor related protein complex 1 subunit beta 1

Alternate names

AP-1 complex subunit beta-1, ADTB1, CLAPB2, Golgi adaptor HA1/AP1 adaptin beta subunit, adapter-related protein complex 1 subunit beta-1, adaptor protein complex AP-1 subunit beta-1, adaptor related protein complex 1 beta 1 subunit, beta-1-adaptin, beta-adaptin ,

Gene location

22q12.2 (29388582: 29327679) Exons: 23 NC_000022.11

Gene summary(Entrez)

Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembra

OMIM

605449

SNPs

rs17005650

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

NC_000004.12   g.122318633G>C
NC_000004.11   g.123239788G>C
NG_015813.2   g.153031G>C
NG_015813.1   g.153031G>C|SEQ=[G/C]|GENE=KIAA1109

rs11467497

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

NC_000020.11   g.145515_145518CAAA[1]
NC_000020.10   g.126156_126159CAAA[1]
NM_030931.4   c.159_162CAAA[1]
NM_030931.3   c.159_162CAAA[1]
NP_112193.1   p.Gln55fs|SEQ=[CAAA/-]|GENE=DEFB126

rs140685149

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

NC_000020.11   g.145673_145674del
NC_000020.11   g.145674del
NC_000020.11   g.145674dup
NC_000020.10   g.126314_126315del
NC_000020.10   g.126315del
NC_000020.10   g.126315dup
NM_030931.4   c.317_318del
NM_030931.4   c.318del
NM_030931.4   c.318dup
NM_030931.3   c.317_3

Protein Summary

Protein general information

Q10567

Name: AP 1 complex subunit beta 1 (Adaptor protein complex AP 1 subunit beta 1) (Adaptor related protein complex 1 subunit beta 1) (Beta 1 adaptin) (Beta adaptin 1) (Clathrin assembly protein complex 1 beta large chain) (Golgi adaptor HA1/AP1 adaptin beta subun

Length: 949 Mass: 104637

Tissue specificity: Widely expressed.

Sequence

MTDSKYFTTTKKGEIFELKAELNSDKKEKKKEAVKKVIASMTVGKDVSALFPDVVNCMQTDNLELKKLVYLYLMN
YAKSQPDMAIMAVNTFVKDCEDPNPLIRALAVRTMGCIRVDKITEYLCEPLRKCLKDEDPYVRKTAAVCVAKLHD
INAQLVEDQGFLDTLKDLISDSNPMVVANAVAALSEIAESHPSSNLLDLNPQSINKLLTALNECTEWGQIFILDC
LANYMPKDDREAQSICERVTPRLSHANSAVVLSAVKVLMKFMEMLSKDLDYYGTLLKKLAPPLVTLLSAEPELQY
VALRNINLIVQKRPEILKHEMKVFFVKYNDPIYVKLEKLDIMIRLASQANIAQVLAELKEYATEVDVDFVRKAVR
AIGRCAIKVEQSAERCVSTLLDLIQTKVNYVVQEAIVVIKDIFRKYPNKYESVIATLCENLDSLDEPEARAAMIW
IVGEYAERIDNADELLESFLEGFHDESTQVQLQLLTAIVKLFLKKPTETQELVQQVLSLATQDSDNPDLRDRGYI
YWRLLSTDPVAAKEVVLAEKPLISEETDLIEPTLLDELICYIGTLASVYHKPPSAFVEGGRGVVHKSLPPRTASS
ESAESPETAPTGAPPGEQPDVIPAQGDLLGDLLNLDLGPPVSGPPLATSSVQMGAVDLLGGGLDSLMGDEPEGIG
GTNFVAPPTAAVPANLGAPIGSGLSDLFDLTSGVGTLSGSYVAPKAVWLPAMKAKGLEISGTFTRQVGSISMDLQ
LTNKALQVMTDFAIQFNRNSFGLAPATPLQVHAPLSPNQTVEISLPLSTVGSVMKMEPLNNLQVAVKNNIDVFYF
STLYPLHILFVEDGKMDRQMFLATWKDIPNENEAQFQIRDCPLNAEAASSKLQSSNIFTVAKRNVEGQDMLYQSL
KLTNGIWVLAELRIQPGNPSCTDLELSLKCRAPEVSQHVYQAYETILKN

Structural information

Interpro:	IPR026739 IPR016342 IPR011989 IPR016024 IPR000225 IPR015151 IPR002553 IPR008152 IPR013041 IPR013037 IPR009028 IPR012295
PDB:	4HMY 4P6Z 6CM9 6CRI 6D83 6D84 6DFF
PDBsum:	4HMY 4P6Z 6CM9 6CRI 6D83 6D84 6DFF
DIP:	24207
MINT:
STRING:	ENSP00000350199

Other Databases

GeneCards: AP1B1 Malacards: AP1B1

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0019901	protein kinase binding	ISS	molecular function
GO:0016192	vesicle-mediated transpor t	IBA	biological process
GO:0016192	vesicle-mediated transpor t	IEA	biological process
GO:0006886	intracellular protein tra nsport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0019886	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological process
GO:0050690	regulation of defense res ponse to virus by virus	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030659	cytoplasmic vesicle membr ane	TAS	cellular component
GO:0030659	cytoplasmic vesicle membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IEA	biological process
GO:0030665	clathrin-coated vesicle m embrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	ISS	molecular function
GO:0016192	vesicle-mediated transpor t	IBA	biological process
GO:0016192	vesicle-mediated transpor t	IEA	biological process
GO:0006886	intracellular protein tra nsport	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0030117	membrane coat	IEA	cellular component
GO:0030131	clathrin adaptor complex	IEA	cellular component
GO:0030276	clathrin binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0019886	antigen processing and pr esentation of exogenous p eptide antigen via MHC cl ass II	TAS	biological process
GO:0050690	regulation of defense res ponse to virus by virus	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030659	cytoplasmic vesicle membr ane	TAS	cellular component
GO:0030659	cytoplasmic vesicle membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0032588	trans-Golgi network membr ane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IEA	biological process
GO:0030665	clathrin-coated vesicle m embrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa04142	Lysosome

Diseases

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Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21674046	Aberrant C pGs in Low Motility Sperm			18	Male infertility	GSE26881	Show abstract
28606200	Cryptorchi dism			Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	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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