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RCCD1 RCC1 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 91433, updated on 6-Sep-2022

Summary

Official Symbol
RCCD1provided by HGNC
Official Full Name
RCC1 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:30457
See related
Ensembl:ENSG00000166965 MIM:617997; AllianceGenome:HGNC:30457
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
Summary
Predicted to be involved in chromatin organization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues See more
Orthologs
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Genomic context

See RCCD1 in Genome Data Viewer
Location:
15q26.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (90954884..90963125)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (88714467..88722708)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (91498114..91506355)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene unc-45 myosin chaperone A Neighboring gene HD domain containing 3 Neighboring gene RCCD1 and UNC45A antisense RNA 1 Neighboring gene PRC1 antisense RNA 1 Neighboring gene protein regulator of cytokinesis 1 Neighboring gene uncharacterized LOC124903556

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

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14386

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 chromatin organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromosome IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
RCC1 domain-containing protein 1

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_001017919.2NP_001017919.1  RCC1 domain-containing protein 1

    See identical proteins and their annotated locations for NP_001017919.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA564459, AL527085, BC008845, BQ924078, BU850147
    Consensus CDS
    CCDS32333.1
    UniProtKB/Swiss-Prot
    A6NED2, Q29RX6
    UniProtKB/TrEMBL
    A0A024RC72
    Related
    ENSP00000377801.2, ENST00000394258.7
    Conserved Domains (2) summary
    COG5184
    Location:156340
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:319366
    RCC1; Regulator of chromosome condensation (RCC1) repeat
  2. NM_033544.3NP_291022.2  RCC1 domain-containing protein 1

    See identical proteins and their annotated locations for NP_291022.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AA564459, AL527085, BC008845, BQ924078, BU850147, BX375216
    Consensus CDS
    CCDS32333.1
    UniProtKB/Swiss-Prot
    A6NED2, Q29RX6
    UniProtKB/TrEMBL
    A0A024RC72
    Related
    ENSP00000451963.1, ENST00000556618.1
    Conserved Domains (2) summary
    COG5184
    Location:156340
    ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    pfam00415
    Location:319366
    RCC1; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    90954884..90963125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433317.1XP_047289273.1  RCC1 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q29RX6
    UniProtKB/TrEMBL
    A0A024RC72
  2. XM_047433316.1XP_047289272.1  RCC1 domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q29RX6
    UniProtKB/TrEMBL
    A0A024RC72
  3. XM_047433318.1XP_047289274.1  RCC1 domain-containing protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    88714467..88722708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)