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RCC1L RCC1 like [ Homo sapiens (human) ]

Gene ID: 81554, updated on 26-May-2016
Official Symbol
RCC1Lprovided by HGNC
Official Full Name
RCC1 likeprovided by HGNC
Primary source
HGNC:HGNC:14948
See related
Ensembl:ENSG00000274523 HPRD:15654; Vega:OTTHUMG00000130373
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
WBSCR16
Summary
This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Orthologs
Location:
7q11.23
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (75027119..75073881, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74441223..74489717, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 5 Neighboring gene speedy/RINGO cell cycle regulator family member E12, pseudogene Neighboring gene uncharacterized LOC105375352 Neighboring gene GATS protein-like 2 Neighboring gene GTF2I repeat domain containing 2B Neighboring gene neutrophil cytosolic factor 1C pseudogene

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC44931, MGC189739, DKFZp434D0421

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
Williams-Beuren syndrome chromosomal region 16 protein
Names
RCC1-like G exchanging factor-like protein
Williams-Beuren syndrome chromosome region 16

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_001281441.1NP_001268370.1  Williams-Beuren syndrome chromosomal region 16 protein isoform 3

    See identical proteins and their annotated locations for NP_001268370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL536085, BC040695
    Consensus CDS
    CCDS64684.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000480781, ENST00000618035
    Conserved Domains (2) summary
    pfam00415
    Location:195245
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  2. NM_030798.4NP_110425.2  Williams-Beuren syndrome chromosomal region 16 protein isoform 1

    See identical proteins and their annotated locations for NP_110425.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL536085, BC007823, BU625907
    Consensus CDS
    CCDS5577.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000480364, OTTHUMP00000277084, ENST00000610322, OTTHUMT00000252740
    Conserved Domains (2) summary
    pfam00415
    Location:412455
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat
  3. NM_148842.2NP_683682.1  Williams-Beuren syndrome chromosomal region 16 protein isoform 2

    See identical proteins and their annotated locations for NP_683682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 3' coding exon and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL536085, BC032712
    Consensus CDS
    CCDS64683.1
    UniProtKB/Swiss-Prot
    Q96I51
    Related
    ENSP00000477659, ENST00000614461
    Conserved Domains (2) summary
    pfam00415
    Location:195245
    RCC1; Regulator of chromosome condensation (RCC1) repeat
    pfam13540
    Location:232261
    RCC1_2; Regulator of chromosome condensation (RCC1) repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    75027119..75073881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    74586535..74633297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)