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CCDC91 coiled-coil domain containing 91 [ Homo sapiens (human) ]

Gene ID: 55297, updated on 1-Aug-2020

Summary

Official Symbol
CCDC91provided by HGNC
Official Full Name
coiled-coil domain containing 91provided by HGNC
Primary source
HGNC:HGNC:24855
See related
Ensembl:ENSG00000123106 MIM:617366
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
p56; HSD8
Expression
Broad expression in testis (RPKM 18.7), thyroid (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See CCDC91 in Genome Data Viewer
Location:
12p11.22
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (28190446..28550166)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (28343360..28703099)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369710 Neighboring gene uncharacterized LOC107984462 Neighboring gene intraflagellar transport 57 homolog (Chlamydomonas) pseudogene Neighboring gene uncharacterized LOC729291 Neighboring gene RNA, U4 small nuclear 54, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 355 Neighboring gene uncharacterized LOC101928705 Neighboring gene ribosomal protein L29 pseudogene 27

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11088, DKFZp779L1558

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Golgi to lysosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 91
Names
GGA-binding partner
p56 accessory protein

NCBI Reference Sequences (RefSeq)

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_001330367.2NP_001317296.1  coiled-coil domain-containing protein 91 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) has the same N- and C-termini but is shorter than isoform 1.
    Source sequence(s)
    AK001950, AL570537, AY289196, BC018679, BU739164, CR749586, DA390133, DA696788
    Consensus CDS
    CCDS81675.1
    UniProtKB/Swiss-Prot
    Q7Z6B0
    UniProtKB/TrEMBL
    Q05D28
    Related
    ENSP00000440513.1, ENST00000539107.5
  2. NM_001352078.2NP_001339007.1  coiled-coil domain-containing protein 91 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variants 1, 4, 5, and 6, encodes isoform 1.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Consensus CDS
    CCDS8716.1
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001352079.2NP_001339008.1  coiled-coil domain-containing protein 91 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variants 1, 3, 5, and 6, encodes isoform 1.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Consensus CDS
    CCDS8716.1
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001352080.2NP_001339009.1  coiled-coil domain-containing protein 91 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variants 1, 3, 4, and 6, encodes isoform 1.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Consensus CDS
    CCDS8716.1
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_001352081.2NP_001339010.1  coiled-coil domain-containing protein 91 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variants 1, 3, 4, and 5, encodes isoform 1.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Consensus CDS
    CCDS8716.1
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_001352082.2NP_001339011.1  coiled-coil domain-containing protein 91 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform 3.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Conserved Domains (1) summary
    cl25732
    Location:124396
    SMC_N; RecF/RecN/SMC N terminal domain
  7. NM_001352083.2NP_001339012.1  coiled-coil domain-containing protein 91 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform 3.
    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Conserved Domains (1) summary
    cl25732
    Location:124396
    SMC_N; RecF/RecN/SMC N terminal domain
  8. NM_001352084.2NP_001339013.1  coiled-coil domain-containing protein 91 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Conserved Domains (1) summary
    cl26511
    Location:135369
    Neuromodulin_N; Gap junction protein N-terminal region
  9. NM_001352086.2NP_001339015.1  coiled-coil domain-containing protein 91 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Conserved Domains (1) summary
    cl25732
    Location:103375
    SMC_N; RecF/RecN/SMC N terminal domain
  10. NM_001352087.2NP_001339016.1  coiled-coil domain-containing protein 91 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC022079, AC024939, AC046131, AC084754
    Conserved Domains (2) summary
    pfam07851
    Location:16123
    TMPIT; TMPIT-like protein
    cl26511
    Location:2242
    Neuromodulin_N; Gap junction protein N-terminal region
  11. NM_018318.5NP_060788.3  coiled-coil domain-containing protein 91 isoform 1

    See identical proteins and their annotated locations for NP_060788.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 3, 4, 5, and 6 all encode the same isoform (1).
    Source sequence(s)
    AK001950, AL570537, AY289196, BC018679, BU739164, DA303929, DA390133
    Consensus CDS
    CCDS8716.1
    UniProtKB/Swiss-Prot
    Q7Z6B0
    UniProtKB/TrEMBL
    A0A024RAW6, Q05D28
    Related
    ENSP00000445660.1, ENST00000536442.5
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    28190446..28550166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719104.3XP_006719167.1  coiled-coil domain-containing protein 91 isoform X1

    See identical proteins and their annotated locations for XP_006719167.1

    UniProtKB/Swiss-Prot
    Q7Z6B0
    UniProtKB/TrEMBL
    A0A024RAW6
    Related
    ENSP00000438040.1, ENST00000545336.5
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_024449036.1XP_024304804.1  coiled-coil domain-containing protein 91 isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:124396
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_024449034.1XP_024304802.1  coiled-coil domain-containing protein 91 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_011520735.1XP_011519037.1  coiled-coil domain-containing protein 91 isoform X6

    See identical proteins and their annotated locations for XP_011519037.1

    Conserved Domains (2) summary
    pfam07851
    Location:16123
    TMPIT; TMPIT-like protein
    cl26511
    Location:2242
    Neuromodulin_N; Gap junction protein N-terminal region
  5. XM_017019569.1XP_016875058.1  coiled-coil domain-containing protein 91 isoform X1

    UniProtKB/Swiss-Prot
    Q7Z6B0
    UniProtKB/TrEMBL
    A0A024RAW6
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  6. XM_017019574.2XP_016875063.1  coiled-coil domain-containing protein 91 isoform X5

    UniProtKB/Swiss-Prot
    Q7Z6B0
    Conserved Domains (1) summary
    cl25732
    Location:103375
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_017019572.1XP_016875061.1  coiled-coil domain-containing protein 91 isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:124396
    SMC_N; RecF/RecN/SMC N terminal domain
  8. XM_024449033.1XP_024304801.1  coiled-coil domain-containing protein 91 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  9. XM_024449037.1XP_024304805.1  coiled-coil domain-containing protein 91 isoform X3

    Conserved Domains (1) summary
    cl25732
    Location:124396
    SMC_N; RecF/RecN/SMC N terminal domain
  10. XM_024449039.1XP_024304807.1  coiled-coil domain-containing protein 91 isoform X5

    Conserved Domains (1) summary
    cl25732
    Location:103375
    SMC_N; RecF/RecN/SMC N terminal domain
  11. XM_024449032.1XP_024304800.1  coiled-coil domain-containing protein 91 isoform X1

    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  12. XM_005253414.1XP_005253471.1  coiled-coil domain-containing protein 91 isoform X1

    See identical proteins and their annotated locations for XP_005253471.1

    UniProtKB/Swiss-Prot
    Q7Z6B0
    UniProtKB/TrEMBL
    A0A024RAW6
    Related
    ENSP00000370658.1, ENST00000381259.5
    Conserved Domains (1) summary
    cl25732
    Location:133413
    SMC_N; RecF/RecN/SMC N terminal domain
  13. XM_005253415.1XP_005253472.1  coiled-coil domain-containing protein 91 isoform X5

    See identical proteins and their annotated locations for XP_005253472.1

    UniProtKB/Swiss-Prot
    Q7Z6B0
    Conserved Domains (1) summary
    cl25732
    Location:103375
    SMC_N; RecF/RecN/SMC N terminal domain
  14. XM_024449038.1XP_024304806.1  coiled-coil domain-containing protein 91 isoform X4

    Conserved Domains (1) summary
    cl26511
    Location:116341
    Neuromodulin_N; Gap junction protein N-terminal region
  15. XM_024449035.1XP_024304803.1  coiled-coil domain-containing protein 91 isoform X2

    Conserved Domains (1) summary
    cl25732
    Location:94366
    SMC_N; RecF/RecN/SMC N terminal domain
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