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CCHCR1 coiled-coil alpha-helical rod protein 1 [ Homo sapiens (human) ]

Gene ID: 54535, updated on 18-Aug-2021

Summary

Official Symbol
CCHCR1provided by HGNC
Official Full Name
coiled-coil alpha-helical rod protein 1provided by HGNC
Primary source
HGNC:HGNC:13930
See related
Ensembl:ENSG00000204536 MIM:605310
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCR; SBP; pg8; C6orf18
Summary
This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]
Expression
Broad expression in testis (RPKM 37.2), prostate (RPKM 4.5) and 18 other tissues See more
Orthologs
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Genomic context

See CCHCR1 in Genome Data Viewer
Location:
6p21.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (31142439..31158209, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31110216..31125974, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene psoriasis susceptibility 1 candidate 1 Neighboring gene psoriasis susceptibility 1 candidate 2 Neighboring gene RNA polymerase II subunit L pseudogene 1 Neighboring gene transcription factor 19 Neighboring gene POU class 5 homeobox 1 Neighboring gene POU5F1 5' regulatory region

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

Associated conditions

Description Tests
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.
GeneReviews: Not available
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
GeneReviews: Not available
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
GeneReviews: Not available
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.
GeneReviews: Not available
Genome-wide association study identifies variations in 6p21.3 associated with nevirapine-induced rash.
GeneReviews: Not available
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
GeneReviews: Not available
Multiple loci are associated with white blood cell phenotypes.
GeneReviews: Not available
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126371, MGC126372

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein export from nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in centriole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil alpha-helical rod protein 1
Names
HCR (a-helix coiled-coil rod homologue)
StAR-binding protein
alpha-helical coiled-coil rod protein
putative gene 8 protein

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.

Genomic

  1. NG_054878.1 RefSeqGene

    Range
    5450..20800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001105563.3NP_001099033.1  coiled-coil alpha-helical rod protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Consensus CDS
    CCDS47397.1
    UniProtKB/Swiss-Prot
    Q8TD31
    UniProtKB/TrEMBL
    A0A1U9X7G6, Q2TB68, Q769H0
    Related
    ENSP00000401039.2, ENST00000451521.6
    Conserved Domains (1) summary
    cl25732
    Location:85826
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001105564.2NP_001099034.1  coiled-coil alpha-helical rod protein 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Consensus CDS
    CCDS43445.1
    UniProtKB/Swiss-Prot
    Q8TD31
    UniProtKB/TrEMBL
    Q2TB68, Q769H0
    Related
    ENSP00000379566.3, ENST00000396268.7
    Conserved Domains (2) summary
    pfam07111
    Location:116862
    HCR; Alpha helical coiled-coil rod protein (HCR)
    cl19219
    Location:309390
    DUF342; Protein of unknown function (DUF342)
  3. NM_001394641.1NP_001381570.1  coiled-coil alpha-helical rod protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL662844
  4. NM_001394642.1NP_001381571.1  coiled-coil alpha-helical rod protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  5. NM_001394643.1NP_001381572.1  coiled-coil alpha-helical rod protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  6. NM_001394644.1NP_001381573.1  coiled-coil alpha-helical rod protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  7. NM_001394646.1NP_001381575.1  coiled-coil alpha-helical rod protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:27770
    HCR; Alpha helical coiled-coil rod protein (HCR)
  8. NM_001394647.1NP_001381576.1  coiled-coil alpha-helical rod protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:1747
    HCR; Alpha helical coiled-coil rod protein (HCR)
  9. NM_001394648.1NP_001381577.1  coiled-coil alpha-helical rod protein 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:1737
    HCR; Alpha helical coiled-coil rod protein (HCR)
  10. NM_001394649.1NP_001381578.1  coiled-coil alpha-helical rod protein 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL662844
    Conserved Domains (1) summary
    pfam07111
    Location:1654
    HCR; Alpha helical coiled-coil rod protein (HCR)
  11. NM_019052.4NP_061925.2  coiled-coil alpha-helical rod protein 1 isoform 3

    See identical proteins and their annotated locations for NP_061925.2

    Status: REVIEWED

    Source sequence(s)
    AA356205, AB112474, AB112475, AK000533, BC110534, DC357362
    Consensus CDS
    CCDS4695.1
    UniProtKB/Swiss-Prot
    Q8TD31
    UniProtKB/TrEMBL
    Q2TB68, Q769H0
    Related
    ENSP00000365442.5, ENST00000376266.9
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    31142439..31158209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010969.1XP_016866458.1  coiled-coil alpha-helical rod protein 1 isoform X5

    Conserved Domains (1) summary
    pfam07111
    Location:1737
    HCR; Alpha helical coiled-coil rod protein (HCR)
  2. XM_017010968.1XP_016866457.1  coiled-coil alpha-helical rod protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TD31
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  3. XM_024446473.1XP_024302241.1  coiled-coil alpha-helical rod protein 1 isoform X4

    Conserved Domains (1) summary
    pfam07111
    Location:53799
    HCR; Alpha helical coiled-coil rod protein (HCR)
  4. XM_017010970.1XP_016866459.1  coiled-coil alpha-helical rod protein 1 isoform X6

    Conserved Domains (1) summary
    pfam07111
    Location:1497
    HCR; Alpha helical coiled-coil rod protein (HCR)
  5. XM_017010966.1XP_016866455.1  coiled-coil alpha-helical rod protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TD31
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  6. XM_011514705.1XP_011513007.1  coiled-coil alpha-helical rod protein 1 isoform X5

    See identical proteins and their annotated locations for XP_011513007.1

    Conserved Domains (1) summary
    pfam07111
    Location:1737
    HCR; Alpha helical coiled-coil rod protein (HCR)
  7. XM_017010963.1XP_016866452.1  coiled-coil alpha-helical rod protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TD31
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  8. XM_017010967.1XP_016866456.1  coiled-coil alpha-helical rod protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TD31
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  9. XM_017010964.1XP_016866453.1  coiled-coil alpha-helical rod protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q8TD31
    Conserved Domains (1) summary
    pfam07111
    Location:27773
    HCR; Alpha helical coiled-coil rod protein (HCR)
  10. XM_011514702.2XP_011513004.1  coiled-coil alpha-helical rod protein 1 isoform X2

    See identical proteins and their annotated locations for XP_011513004.1

    Conserved Domains (2) summary
    pfam07111
    Location:94835
    HCR; Alpha helical coiled-coil rod protein (HCR)
    cl19219
    Location:282363
    DUF342; Protein of unknown function (DUF342)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    2624870..2640625 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    2401761..2417517 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    2452954..2468732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    2486567..2502346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    2400454..2416229 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001394645.1: Suppressed sequence

    Description
    NM_001394645.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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