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

    Gene ID: 54940, updated on 10-Dec-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 and mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 53.3), brain (RPKM 50.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See OCIAD1 in Genome Data Viewer
    Location:
    4p11
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (48805156..48861815)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (48797241..48828402)
    RS_2024_09 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

    Bibliography

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    Related articles in PubMed

    1. 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
    2. 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
    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. 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
    5. 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

    See all (85) 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)

    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 
    located_in mitochondrion HTP 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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    NEW Try the new Transcript table

    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_2024_08

    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
      UniProtKB/TrEMBL
      D6RBN5

    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
      UniProtKB/TrEMBL
      D6RBN5

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

      UniProtKB/TrEMBL
      D6RIT9

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

      UniProtKB/Swiss-Prot
      C9K030, G8JLN7, Q9BZE8, Q9NX40
      UniProtKB/TrEMBL
      D6RBN5

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

      UniProtKB/TrEMBL
      D6RBN5

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

      UniProtKB/TrEMBL
      D6RIT9

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

      UniProtKB/TrEMBL
      D6RIT9

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

      UniProtKB/Swiss-Prot
      C9K030, G8JLN7, Q9BZE8, Q9NX40
      UniProtKB/TrEMBL
      D6RBN5

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

      UniProtKB/Swiss-Prot
      C9K030, G8JLN7, Q9BZE8, Q9NX40
      UniProtKB/TrEMBL
      D6RBN5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NX40.1 GenPept UniProtKB/Swiss-Prot:Q9NX40

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