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OCIAD1 OCIA domain containing 1 [ Homo sapiens (human) ]

Gene ID: 54940, updated on 7-Apr-2024

Summary

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Official Symbol
OCIAD1provided by HGNC
Official Full Name
OCIA domain containing 1provided by HGNC
Primary source
HGNC:HGNC:16074
See related
Ensembl:ENSG00000109180 MIM:619596; AllianceGenome:HGNC:16074
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OCIA; ASRIJ; TPA018
Summary
Predicted to be involved in several processes, including hematopoietic stem cell homeostasis; positive regulation of receptor signaling pathway via JAK-STAT; and regulation of stem cell differentiation. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 53.3), brain (RPKM 50.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
4p11
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48805156..48861815)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (48797241..48828402)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (48833105..48863832)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15410 Neighboring gene zygote arrest 1 Neighboring gene FRY like transcription coactivator Neighboring gene RNA, U5E small nuclear 3, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3875 Neighboring gene Sharpr-MPRA regulatory region 7734 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15414 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:48832895-48833458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:48833459-48834021 Neighboring gene OCIAD1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21550 Neighboring gene OCIA domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:48925455-48925954 Neighboring gene RNA, U6 small nuclear 158, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells. Le Vasseur M, et al. Elife, 2021 May 26. PMID 34034859, Free PMC Article
  2. Expression of NCAM and OCIAD1 in well-differentiated thyroid carcinoma: correlation with the risk of distant metastasis. Yang AH, et al. J Clin Pathol, 2012 Mar. PMID 22081784
  3. Role of the 18:1 lysophosphatidic acid-ovarian cancer immunoreactive antigen domain containing 1 (OCIAD1)-integrin axis in generating late-stage ovarian cancer. Wang C, et al. Mol Cancer Ther, 2010 Jun. PMID 20515946
  4. Ovarian cancer immuno-reactive antigen domain containing 1 (OCIAD1), a key player in ovarian cancer cell adhesion. Sengupta S, et al. Gynecol Oncol, 2008 May. PMID 18328549
  5. Molecular cloning of a novel human gene on chromosome 4p11 by immunoscreening of an ovarian carcinoma cDNA library. Luo LY, et al. Biochem Biophys Res Commun, 2001 Jan 12. PMID 11162530

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells.
    Title: Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells.
  2. OCIAD1 is a host mitochondrial substrate of the hepatitis C virus NS3-4A protease.
    Title: OCIAD1 is a host mitochondrial substrate of the hepatitis C virus NS3-4A protease.
  3. OCIAD1 contributes to neurodegeneration in Alzheimer's disease by inducing mitochondria dysfunction, neuronal vulnerability and synaptic damages.
    Title: OCIAD1 contributes to neurodegeneration in Alzheimer's disease by inducing mitochondria dysfunction, neuronal vulnerability and synaptic damages.
  4. high OCIAD1 levels in pancreatic ductal adenocarcinoma promoted tumor cells migration. OCIAD1 exerted its effects by regulating ATM
    Title: OCIAD1 promoted pancreatic ductal adenocarcinoma migration by regulating ATM.
  5. Like OCIAD1, OCIAD2 is a cancer-related protein and its expression level increases during the course of malignant progression and is thought to be a very useful marker for evaluating the malignancy of ovarian mucinous tumors.
    Title: Increased expression of OCIA domain containing 2 during stepwise progression of ovarian mucinous tumor.
  6. OCIAD1 is a potential biomarker of thyroid carcinoma but had no significant additive effect on the risk of distant metastasis.
    Title: Expression of NCAM and OCIAD1 in well-differentiated thyroid carcinoma: correlation with the risk of distant metastasis.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. This is the first study to indicate that OCIAD1 is a key player in generating ovarian cancer recurrence.
    Title: Role of the 18:1 lysophosphatidic acid-ovarian cancer immunoreactive antigen domain containing 1 (OCIAD1)-integrin axis in generating late-stage ovarian cancer.
  9. Over-expressed in metastatic ovarian cancer. Effect of OCIAD1 on cell adhesion may be related to its function in ovarian cancer. Possibility of OCIAD1's role in tumor metastasis.
    Title: Ovarian cancer immuno-reactive antigen domain containing 1 (OCIAD1), a key player in ovarian cancer cell adhesion.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of OCIA domain containing 1 (OCIAD1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein OCIA domain containing 1 (OCIAD1) in cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20455, MGC111072

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in hematopoietic stem cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of receptor signaling pathway via JAK-STAT ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in lysosome ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
OCIA domain-containing protein 1
Names
ovarian cancer immunoreactive antigen domain containing 1
ovarian cancer immunoreactive antigen domain containing 1A
ovarian carcinoma immunoreactive antigen

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001079839.3 → NP_001073308.1  OCIA domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_001073308.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses a different splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC079927, AI038315, BC088361, BI549536, BM999322
    Consensus CDS
    CCDS3484.1
    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
    UniProtKB/TrEMBL
    D6RBN5
    Related
    ENSP00000370882.3, ENST00000381473.7
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  2. NM_001079840.3 → NP_001073309.1  OCIA domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001073309.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. Both variants 3 and 5 encode the same isoform.
    Source sequence(s)
    AI038315, AL539411, BM999322, BQ272551, DA037995
    Consensus CDS
    CCDS47052.1
    UniProtKB/TrEMBL
    D6RIT9
    Related
    ENSP00000399656.2, ENST00000444354.6
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  3. NM_001079841.3 → NP_001073310.1  OCIA domain-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001073310.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AF324350, AI038315, BM999322, BQ272551
    Consensus CDS
    CCDS43228.1
    UniProtKB/TrEMBL
    D6RIT9
    Related
    ENSP00000379725.2, ENST00000396448.6
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  4. NM_001079842.3 → NP_001073311.2  OCIA domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_001073311.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses a different splice site in the 5' UTR, and lacks an in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1. Both variants 3 and 5 encode the same isoform.
    Source sequence(s)
    AC079927, AI038315, BI549536, BM999322, BQ272551, CD515566
    Consensus CDS
    CCDS47052.1
    UniProtKB/TrEMBL
    D6RIT9
    Related
    ENSP00000416943.2, ENST00000425583.6
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  5. NM_001168254.2 → NP_001161726.1  OCIA domain-containing protein 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (4) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC079927, AI038315, AL519557, BM999322
    UniProtKB/TrEMBL
    D6RBN5
    Conserved Domains (1) summary
    pfam07051
    Location:20 → 116
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  6. NM_017830.4 → NP_060300.1  OCIA domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_060300.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AF251296, AI038315, BM999322, DA037995
    Consensus CDS
    CCDS3484.1
    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
    UniProtKB/TrEMBL
    D6RBN5
    Related
    ENSP00000264312.7, ENST00000264312.12
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    48805156..48861815
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047415862.1 → XP_047271818.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40

  2. XM_024454112.2 → XP_024309880.1  OCIA domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    D6RIT9
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  3. XM_024454108.2 → XP_024309876.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
    UniProtKB/TrEMBL
    D6RBN5
    Related
    ENSP00000424041.1, ENST00000509122.5
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  4. XM_024454105.2 → XP_024309873.1  OCIA domain-containing protein 1 isoform X1

    UniProtKB/TrEMBL
    D6RBN5
    Conserved Domains (1) summary
    pfam07051
    Location:39 → 124
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  5. XM_024454109.2 → XP_024309877.1  OCIA domain-containing protein 1 isoform X3

    UniProtKB/TrEMBL
    D6RIT9
    Conserved Domains (1) summary
    pfam07051
    Location:39 → 124
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  6. XM_024454107.2 → XP_024309875.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
    UniProtKB/TrEMBL
    D6RBN5
    Related
    ENSP00000423002.1, ENST00000508293.5
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  7. XM_024454106.2 → XP_024309874.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
    UniProtKB/TrEMBL
    D6RBN5
    Related
    ENSP00000423909.2, ENST00000513391.2
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

  8. XM_024454111.2 → XP_024309879.1  OCIA domain-containing protein 1 isoform X4

    UniProtKB/TrEMBL
    D6RIT9
    Conserved Domains (1) summary
    pfam07051
    Location:24 → 109
    OCIA; Ovarian carcinoma immunoreactive antigen (OCIA)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    48797241..48828402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350308.1 → XP_054206283.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40

  2. XM_054350311.1 → XP_054206286.1  OCIA domain-containing protein 1 isoform X4

  3. XM_054350305.1 → XP_054206280.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40

  4. XM_054350304.1 → XP_054206279.1  OCIA domain-containing protein 1 isoform X1

  5. XM_054350309.1 → XP_054206284.1  OCIA domain-containing protein 1 isoform X3

  6. XM_054350310.1 → XP_054206285.1  OCIA domain-containing protein 1 isoform X4

  7. XM_054350306.1 → XP_054206281.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40

  8. XM_054350307.1 → XP_054206282.1  OCIA domain-containing protein 1 isoform X2

    UniProtKB/Swiss-Prot
    C9K030, G8JLN7, Q9BZE8, Q9NX40
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX40.1 GenPept UniProtKB/Swiss-Prot:Q9NX40

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