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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

    Gene LinkOut

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