• Gene id: 23085

Gene Summary

• Gene Symbol: ERC1   Gene   UCSC   Ensembl
• Aliases: Cast2, ELKS, ERC-1, RAB6IP2
• Gene name: ELKS/RAB6-interacting/CAST family member 1
• Alternate names: ELKS/Rab6-interacting/CAST family member 1, RAB6 interacting protein 2,
• Gene location: 12p13.33 (990029: 1495932)     Exons: 9     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due
• OMIM: 607127

Protein Summary

• Protein general information: Q8IUD2  
  • Name: ELKS/Rab6 interacting/CAST family member 1 (ERC 1) (Rab6 interacting protein 2)
  • Length: 1116  
  • Mass: 128086
  • Tissue specificity: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested. {ECO
• Sequence:

  MYGSARSVGKVEPSSQSPGRSPRLPRSPRLGHRRTNSTGGSSGSSVGGGSGKTLSMENIQSLNAAYATSGPMYLS
  DHENVGSETPKSTMTLGRSGGRLPYGVRMTAMGSSPNIASSGVASDTIAFGEHHLPPVSMASTVPHSLRQARDNT
  IMDLQTQLKEVLRENDLLRKDVEVKESKLSSSMNSIKTFWSPELKKERALRKDEASKITIWKEQYRVVQEENQHM
  QMTIQALQDELRIQRDLNQLFQQDSSSRTGEPCVAELTEENFQRLHAEHERQAKELFLLRKTLEEMELRIETQKQ
  TLNARDESIKKLLEMLQSKGLSAKATEEDHERTRRLAEAEMHVHHLESLLEQKEKENSMLREEMHRRFENAPDSA
  KTKALQTVIEMKDSKISSMERGLRDLEEEIQMLKSNGALSTEEREEEMKQMEVYRSHSKFMKNKVEQLKEELSSK
  EAQWEELKKKAAGLQAEIGQVKQELSRKDTELLALQTKLETLTNQFSDSKQHIEVLKESLTAKEQRAAILQTEVD
  ALRLRLEEKETMLNKKTKQIQDMAEEKGTQAGEIHDLKDMLDVKERKVNVLQKKIENLQEQLRDKEKQMSSLKER
  VKSLQADTTNTDTALTTLEEALAEKERTIERLKEQRDRDEREKQEEIDNYKKDLKDLKEKVSLLQGDLSEKEASL
  LDLKEHASSLASSGLKKDSRLKTLEIALEQKKEECLKMESQLKKAHEAALEARASPEMSDRIQHLEREITRYKDE
  SSKAQAEVDRLLEILKEVENEKNDKDKKIAELERQVKDQNKKVANLKHKEQVEKKKSAQMLEEARRREDNLNDSS
  QQLQDSLRKKDDRIEELEEALRESVQITAEREMVLAQEESARTNAEKQVEELLMAMEKVKQELESMKAKLSSTQQ
  SLAEKETHLTNLRAERRKHLEEVLEMKQEALLAAISEKDANIALLELSSSKKKTQEEVAALKREKDRLVQQLKQQ
  TQNRMKLMADNYEDDHFKSSHSNQTNHKPSPDQIIQPLLELDQNRSKLKLYIGHLTTLCHDRDPLILRGLTPPAS
  YNLDDDQAAWENELQKMTRGQLQDELEKGERDNAELQEFANAILQQIADHCPDILEQVVNALEESS

• Structural information:
  • Protein Domains: (1046..110-)
    (/note="FIP-RBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00844"-)
  • Interpro: IPR019323  IPR037245  IPR019018  
  • Prosite: PS51511
  • STRING: ENSP00000468263
• Other Databases: GeneCards:  ERC1  Malacards:  ERC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017137	Rab GTPase binding	ISS	molecular function
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0042147	retrograde transport, endosome to Golgi	ISS	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008385	IkappaB kinase complex	IDA	cellular component
GO:0007252	I-kappaB phosphorylation	IDA	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0043522	leucine zipper domain binding	NAS	molecular function
GO:0042734	presynaptic membrane	TAS	cellular component
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051092	positive regulation of NF-kappaB transcription factor activity	TAS	biological process
GO:0043066	negative regulation of apoptotic process	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04064	NF-kappa B signaling pathway

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray