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GCSAML germinal center associated signaling and motility like [ Homo sapiens (human) ]

Gene ID: 148823, updated on 5-Mar-2024

Summary

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Official Symbol
GCSAMLprovided by HGNC
Official Full Name
germinal center associated signaling and motility likeprovided by HGNC
Primary source
HGNC:HGNC:29583
See related
Ensembl:ENSG00000169224 AllianceGenome:HGNC:29583
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
C1orf150
Summary
This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Expression
Broad expression in prostate (RPKM 1.7), testis (RPKM 1.5) and 15 other tissues See more
Orthologs
all
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Genomic context

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See GCSAML in Genome Data Viewer
Location:
1q44
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (247507058..247577690)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (246943860..247014507)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (247670360..247740992)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 2 subfamily B member 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:247634472-247634665 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:247634852-247635484 Neighboring gene olfactory receptor family 2 subfamily W member 5 pseudogene Neighboring gene GCSAML antisense RNA 1 Neighboring gene olfactory receptor family 2 subfamily C member 3 Neighboring gene uncharacterized LOC102724446 Neighboring gene MPRA-validated peak835 silencer Neighboring gene olfactory receptor family 2 subfamily G member 2 Neighboring gene olfactory receptor family 2 subfamily G member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Maternal 5(m)CpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues. de Sá Machado Araújo G, et al. Front Genet, 2018. PMID 29545821, Free PMC Article
  2. Germline genomic variants associated with childhood acute lymphoblastic leukemia. Treviño LR, et al. Nat Genet, 2009 Sep. PMID 19684603, Free PMC Article
  3. New gene functions in megakaryopoiesis and platelet formation. Gieger C, et al. Nature, 2011 Nov 30. PMID 22139419, Free PMC Article
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

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

EBI GWAS Catalog

Description
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
EBI GWAS Catalog
New gene functions in megakaryopoiesis and platelet formation.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41804, FLJ44728

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 regulation of B cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of lymphocyte migration IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
germinal center-associated signaling and motility-like 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.

mRNA and Protein(s)

  1. NM_001281834.2 → NP_001268763.1  germinal center-associated signaling and motility-like protein isoform b

    See identical proteins and their annotated locations for NP_001268763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains multiple alternate exons in the 5' UTR and lacks an in-frame exon compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AK124520, AK126682, BU155429, BU852381, DC310064
    Consensus CDS
    CCDS60470.1
    UniProtKB/Swiss-Prot
    Q5JQS6
    UniProtKB/TrEMBL
    Q6ZVI8
    Related
    ENSP00000355447.2, ENST00000366491.6
    Conserved Domains (1) summary
    pfam15666
    Location:34 → 114
    HGAL; Germinal center-associated lymphoma

  2. NM_001281835.2 → NP_001268764.1  germinal center-associated signaling and motility-like protein isoform b

    See identical proteins and their annotated locations for NP_001268764.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains multiple alternate exons in the 5' UTR and lacks an in-frame exon compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AK126682, AL606804, BC024174, BU852381, DC310064
    Consensus CDS
    CCDS60470.1
    UniProtKB/Swiss-Prot
    Q5JQS6
    Related
    ENSP00000355445.1, ENST00000366489.5
    Conserved Domains (1) summary
    pfam15666
    Location:34 → 114
    HGAL; Germinal center-associated lymphoma

  3. NM_001281836.2 → NP_001268765.1  germinal center-associated signaling and motility-like protein isoform c

    See identical proteins and their annotated locations for NP_001268765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple alternate exons in the 5' UTR, lacks an in-frame exon and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4, 5 and 6 encode the same protein.
    Source sequence(s)
    AK307082, AL606804, BC024174, BU852381
    Consensus CDS
    CCDS73058.1
    UniProtKB/TrEMBL
    E9PLW0
    Related
    ENSP00000432118.1, ENST00000527084.5
    Conserved Domains (1) summary
    pfam15666
    Location:22 → 102
    HGAL; Germinal center-associated lymphoma

  4. NM_001281837.1 → NP_001268766.1  germinal center-associated signaling and motility-like protein isoform c

    See identical proteins and their annotated locations for NP_001268766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains multiple alternate exons in the 5' UTR, lacks an in-frame exon and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4, 5 and 6 encode the same protein.
    Source sequence(s)
    AL606804, BC024174, BU852381, DB095029
    Consensus CDS
    CCDS73058.1
    UniProtKB/TrEMBL
    E9PLW0
    Related
    ENSP00000485175.1, ENST00000623578.3
    Conserved Domains (1) summary
    pfam15666
    Location:22 → 102
    HGAL; Germinal center-associated lymphoma

  5. NM_001281838.2 → NP_001268767.1  germinal center-associated signaling and motility-like protein isoform c

    See identical proteins and their annotated locations for NP_001268767.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains multiple alternate exons in the 5' UTR, lacks two in-frame exons and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4, 5 and 6 encode the same protein.
    Source sequence(s)
    AK124520, AK307081, AL606804, BU852381
    Consensus CDS
    CCDS73058.1
    UniProtKB/TrEMBL
    E9PLW0
    Related
    ENSP00000435110.1, ENST00000527541.5
    Conserved Domains (1) summary
    pfam15666
    Location:22 → 102
    HGAL; Germinal center-associated lymphoma

  6. NM_001281853.1 → NP_001268782.1  germinal center-associated signaling and motility-like protein isoform a

    See identical proteins and their annotated locations for NP_001268782.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains multiple alternate exons in the 5' UTR. Variants 1 and 7 encode the same protein (isoform a).
    Source sequence(s)
    AL606804, BC024174, BU852381, DA118297, DC310064
    Consensus CDS
    CCDS1635.1
    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3
    Related
    ENSP00000446460.2, ENST00000536561.5
    Conserved Domains (1) summary
    pfam15666
    Location:54 → 134
    HGAL; Germinal center-associated lymphoma

  7. NM_145278.5 → NP_660321.1  germinal center-associated signaling and motility-like protein isoform a

    See identical proteins and their annotated locations for NP_660321.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). The 5' UTR splicing pattern has not been determined for this variant. Variants 1 and 7 encode the same protein.
    Source sequence(s)
    AK124520, AL606804, BC024174, BU852381
    Consensus CDS
    CCDS1635.1
    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3
    Related
    ENSP00000355444.4, ENST00000366488.5
    Conserved Domains (1) summary
    pfam15666
    Location:54 → 134
    HGAL; Germinal center-associated lymphoma

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    247507058..247577690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047447035.1 → XP_047302991.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3

  2. XM_047447036.1 → XP_047302992.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3

  3. XM_047447037.1 → XP_047302993.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    246943860..247014507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334603.1 → XP_054190578.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3

  2. XM_054334604.1 → XP_054190579.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3

  3. XM_054334605.1 → XP_054190580.1  germinal center-associated signaling and motility-like protein isoform X1

    UniProtKB/Swiss-Prot
    B2R4Y5, B3KX46, Q5JQS6, Q5JQT3
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JQS6.1 GenPept UniProtKB/Swiss-Prot:Q5JQS6

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