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SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 [ Homo sapiens (human) ]

Gene ID: 23347, updated on 12-Aug-2018
Official Symbol
SMCHD1provided by HGNC
Official Full Name
structural maintenance of chromosomes flexible hinge domain containing 1provided by HGNC
Primary source
HGNC:HGNC:29090
See related
Ensembl:ENSG00000101596 MIM:614982; Vega:OTTHUMG00000178235
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
BAMS; FSHD2
Summary
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
Expression
Ubiquitous expression in lymph node (RPKM 16.1), bone marrow (RPKM 16.1) and 25 other tissues See more
Orthologs
See SMCHD1 in Genome Data Viewer
Location:
18p11.32
Exon count:
51
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (2655887..2805017)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (2655886..2805015)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 340, pseudogene Neighboring gene chromobox 3 pseudogene 2 Neighboring gene elastin microfibril interfacer 2 Neighboring gene lipin 2 Neighboring gene cysteine and histidine rich domain containing 1 pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Arhinia choanal atresia microphthalmia
MedGen: C1863878 OMIM: 603457 GeneReviews: Not available
not available
Facioscapulohumeral muscular dystrophy 2 Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0650, DKFZp686O0631

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Barr body IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
structural maintenance of chromosomes flexible hinge domain-containing protein 1
Names
SMC hinge domain-containing protein 1

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.

Genomic

  1. NG_031972.1 RefSeqGene

    Range
    5001..154130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015295.2NP_056110.2  structural maintenance of chromosomes flexible hinge domain-containing protein 1

    See identical proteins and their annotated locations for NP_056110.2

    Status: REVIEWED

    Source sequence(s)
    AB014550, AI904018, AP001011, AW503637, BC006008, BP872870, BU153211, BU509173, DA283721, DA675822, DB071574, DN913642
    Consensus CDS
    CCDS45822.1
    UniProtKB/Swiss-Prot
    A6NHR9
    Related
    ENSP00000326603.6, OTTHUMP00000258898, ENST00000320876.10, OTTHUMT00000441082
    Conserved Domains (3) summary
    smart00968
    Location:17201846
    SMC_hinge; SMC proteins Flexible Hinge Domain
    pfam15898
    Location:16401703
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl00075
    Location:143275
    HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    2655887..2805017
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025684.1XP_016881173.1  structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X3

    Conserved Domains (2) summary
    smart00968
    Location:15321658
    SMC_hinge; SMC proteins Flexible Hinge Domain
    pfam15898
    Location:14521515
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
  2. XM_011525642.1XP_011523944.1  structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X1

    Conserved Domains (3) summary
    smart00968
    Location:17201846
    SMC_hinge; SMC proteins Flexible Hinge Domain
    pfam15898
    Location:16401703
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl00075
    Location:143275
    HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins
  3. XM_011525643.2XP_011523945.1  structural maintenance of chromosomes flexible hinge domain-containing protein 1 isoform X2

    Conserved Domains (3) summary
    smart00968
    Location:17201846
    SMC_hinge; SMC proteins Flexible Hinge Domain
    pfam15898
    Location:16401703
    PRKG1_interact; cGMP-dependent protein kinase interacting domain
    cl00075
    Location:143275
    HATPase_c; Histidine kinase-like ATPases; This family includes several ATP-binding proteins for example: histidine kinase, DNA gyrase B, topoisomerases, heat shock protein HSP90, phytochrome-like ATPases and DNA mismatch repair proteins

RNA

  1. XR_001753172.1 RNA Sequence

  2. XR_001753173.1 RNA Sequence

  3. XR_001753175.1 RNA Sequence

  4. XR_001753177.1 RNA Sequence

  5. XR_001753178.1 RNA Sequence

  6. XR_001753174.1 RNA Sequence

  7. XR_001753176.1 RNA Sequence

  8. XR_935055.2 RNA Sequence

  9. XR_001753179.1 RNA Sequence

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