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MANSC1 MANSC domain containing 1 [ Homo sapiens (human) ]

Gene ID: 54682, updated on 2-Nov-2024

Summary

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Official Symbol
MANSC1provided by HGNC
Official Full Name
MANSC domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25505
See related
Ensembl:ENSG00000111261 AllianceGenome:HGNC:25505
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
Also known as
LOH12CR3; 9130403P13Rik
Summary
Predicted to be located in membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues See more
Orthologs
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Genomic context

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See MANSC1 in Genome Data Viewer
Location:
12p13.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12326056..12350242, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12195172..12219375, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12478990..12503176, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene LDL receptor related protein 6 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12416308-12416808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4251 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12419985-12420621 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12436705-12437246 Neighboring gene RNA, U6 small nuclear 318, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12478241-12478741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4252 Neighboring gene CRISPRi-validated cis-regulatory element chr12.586 Neighboring gene ribosomal protein L23a pseudogene 66 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12509797-12510475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6011 Neighboring gene loss of heterozygosity on chromosome 12, region 2 Neighboring gene Sharpr-MPRA regulatory region 10643 Neighboring gene BLOC-1 related complex subunit 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12560630-12560819 Neighboring gene Sharpr-MPRA regulatory region 7135 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12592110-12593309 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_25257 Neighboring gene adaptor related protein complex 3 subunit sigma 1 pseudogene

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 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. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
  2. EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation. Wang L, et al. Nat Commun, 2022 Jan 10. PMID 35013218, Free PMC Article
  3. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
  4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (10) 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

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

  • FLJ10298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
MANSC domain-containing protein 1
Names
loss of heterozygosity 12 chromosomal region 3 protein
NP_001350542.1
NP_060520.2

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_001363613.2 → NP_001350542.1  MANSC domain-containing protein 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC007621
    Consensus CDS
    CCDS86284.1
    UniProtKB/TrEMBL
    B4DQ82
    Related
    ENSP00000379638.3, ENST00000396349.3
    Conserved Domains (2) summary
    smart00765
    Location:12 → 83
    MANEC; The MANEC domain, formerly called MANSC
    cl25495
    Location:186 → 374
    Endomucin; Endomucin

  2. NM_018050.4 → NP_060520.2  MANSC domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060520.2

    Status: VALIDATED

    Source sequence(s)
    AC007621, AK023622
    Consensus CDS
    CCDS8648.1
    UniProtKB/Swiss-Prot
    Q8NEC1, Q9H8J5, Q9NW60
    UniProtKB/TrEMBL
    B4DQ82
    Related
    ENSP00000438205.1, ENST00000535902.6
    Conserved Domains (2) summary
    smart00765
    Location:24 → 117
    MANEC; The MANEC domain, formerly called MANSC
    PHA03255
    Location:220 → 408
    PHA03255; BDLF3; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    12326056..12350242 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332696.1 Reference GRCh38.p14 PATCHES

    Range
    295054..319240 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    12195172..12219375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H8J5.1 GenPept UniProtKB/Swiss-Prot:Q9H8J5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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