Q96GD3 (SCMH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 102.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Polycomb protein SCMH1 Alternative name(s): Sex comb on midleg homolog 1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Reference proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 660 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes By similarity. |
| Subunit structure | Interacts with the SAM domain of PHC1 via its SAM domain in vitro By similarity. Associates with a PRC1-like complex. UniProtKB Q8K214 |
| Subcellular location | Nucleus Probable. |
| Tissue specificity | Strongly expressed in heart, muscle and pancreas. Weakly expressed in brain, placenta, lung, liver and kidney. Ref.1 |
| Sequence similarities | Belongs to the SCM family. Contains 2 MBT repeats. Contains 1 SAM (sterile alpha motif) domain. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.4 (identifier: Q96GD3-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 2 Ref.4 (identifier: Q96GD3-2) The sequence of this isoform differs from the canonical sequence as follows: 1-24: MLVCYSVLACEILWDLPCSIMGSP → MQPNVIDWSDVRKHKYGHLSESASQYQEAADILD 550-571: Missing. | ||||||
| Note: Gene prediction confirmed by EST data. | ||||||
| Isoform 3 Ref.4 (identifier: Q96GD3-3) The sequence of this isoform differs from the canonical sequence as follows: 1-61: Missing. | ||||||
| Isoform 4 Ref.1 (identifier: Q96GD3-4) The sequence of this isoform differs from the canonical sequence as follows: 1-48: MLVCYSVLACEILWDLPCSIMGSPLGHFTWDKYLKETCSVPAPVHCFK → M 550-571: Missing. | ||||||
| Isoform 5 Ref.1 (identifier: Q96GD3-5) The sequence of this isoform differs from the canonical sequence as follows: 1-61: Missing. 550-571: Missing. | ||||||
| Note: May be due to intron retention. | ||||||
| Isoform 6 (identifier: Q96GD3-6) The sequence of this isoform differs from the canonical sequence as follows: 1-48: MLVCYSVLACEILWDLPCSIMGSPLGHFTWDKYLKETCSVPAPVHCFK → M 128-238: Missing. 550-571: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 660 | 660 | Polycomb protein SCMH1 | PRO_0000114334 | |||||||||||||||||||||||||||||||||||||
Regions | |||||||||||||||||||||||||||||||||||||||||
| Repeat | 28 – 126 | 99 | MBT 1 | ||||||||||||||||||||||||||||||||||||||
| Repeat | 134 – 235 | 102 | MBT 2 | ||||||||||||||||||||||||||||||||||||||
| Domain | 593 – 658 | 66 | SAM | ||||||||||||||||||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 61 | 61 | Missing in isoform 3 and isoform 5. Ref.1 Ref.4 | VSP_051678 | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 48 | 48 | MLVCY…VHCFK → M in isoform 4 and isoform 6. Ref.1 | VSP_051677 | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 1 – 24 | 24 | MLVCY…IMGSP → MQPNVIDWSDVRKHKYGHLS ESASQYQEAADILD in isoform 2. Ref.4 | VSP_051676 | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 128 – 238 | 111 | Missing in isoform 6. | VSP_043395 | |||||||||||||||||||||||||||||||||||||
| Alternative sequence | 550 – 571 | 22 | Missing in isoform 2, isoform 4, isoform 5 and isoform 6. Ref.1 Ref.4 | VSP_051679 | |||||||||||||||||||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||||||||||||||||||
| Sequence conflict | 463 | 1 | F → L Ref.3 | ||||||||||||||||||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||||||||||||||||||
| Helix | 30 – 36 | 7 | |||||||||||||||||||||||||||||||||||||||
| Helix | 44 – 46 | 3 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 47 – 49 | 3 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 63 – 68 | 6 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 71 – 84 | 14 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 87 – 92 | 6 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 101 – 104 | 4 | |||||||||||||||||||||||||||||||||||||||
| Helix | 115 – 118 | 4 | |||||||||||||||||||||||||||||||||||||||
| Helix | 133 – 135 | 3 | |||||||||||||||||||||||||||||||||||||||
| Helix | 136 – 144 | 9 | |||||||||||||||||||||||||||||||||||||||
| Helix | 152 – 154 | 3 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 172 – 176 | 5 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 184 – 193 | 10 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 196 – 201 | 6 | |||||||||||||||||||||||||||||||||||||||
| Turn | 205 – 208 | 4 | |||||||||||||||||||||||||||||||||||||||
| Beta strand | 210 – 213 | 4 | |||||||||||||||||||||||||||||||||||||||
| Helix | 224 – 228 | 5 | |||||||||||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The human homolog of Sex comb on midleg (SCMH1) maps to chromosome 1p34." Berger J., Kurahashi H., Takihara Y., Shimada K., Brock H.W., Randazzo F. Gene 237:185-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), TISSUE SPECIFICITY. Tissue: Heart and Skeletal muscle. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Tongue. |
| [3] | "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). |
| [4] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Fetal brain. |
| [5] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 2). |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Eye and Muscle. |
| [7] | "The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans." Levine S.S., Weiss A., Erdjument-Bromage H., Shao Z., Tempst P., Kingston R.E. Mol. Cell. Biol. 22:6070-6078(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, ASSOCIATION WITH A PRC1-LIKE COMPLEX. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AF149045 mRNA. Translation: AAF01150.1. AF149046 mRNA. Translation: AAF01151.1. AK299383 mRNA. Translation: BAG61370.1. CR457161 mRNA. Translation: CAG33442.1. BX640721 mRNA. Translation: CAE45840.1. AL110502, AL391730 Genomic DNA. Translation: CAI22109.1. AL110502, AL391730 Genomic DNA. Translation: CAI22110.1. AL110502, AL391730, AL606484 Genomic DNA. Translation: CAI22111.1. AL110502, AL391730 Genomic DNA. Translation: CAI22112.1. AL110502, AL391730 Genomic DNA. Translation: CAI22113.1. AL391730, AL110502 Genomic DNA. Translation: CAH72791.1. AL391730, AL110502 Genomic DNA. Translation: CAH72793.1. AL391730, AL110502, AL606484 Genomic DNA. Translation: CAH72794.1. AL391730, AL110502 Genomic DNA. Translation: CAH72795.1. AL391730, AL110502 Genomic DNA. Translation: CAH72796.1. AL606484, AL110502, AL391730 Genomic DNA. Translation: CAH72242.1. BC009752 mRNA. Translation: AAH09752.1. BC021252 mRNA. Translation: AAH21252.1. | ||||||||||||
| IPI | IPI00187110. IPI00396653. IPI00479699. IPI00552451. IPI00552650. IPI00910048. | ||||||||||||
| RefSeq | NP_001026864.1. NM_001031694.2. NP_001165689.1. NM_001172218.1. NP_001165690.1. NM_001172219.1. NP_001165691.1. NM_001172220.1. NP_001165692.1. NM_001172221.1. NP_001165693.1. NM_001172222.1. NP_036368.1. NM_012236.3. | ||||||||||||
| UniGene | Hs.571874. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
| ||||||||||||
| ProteinModelPortal | Q96GD3. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | Q96GD3. 10 interactions. | ||||||||||||
| MINT | MINT-1422768. | ||||||||||||
| STRING | 9606.ENSP00000318094. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | Q96GD3. | ||||||||||||
Polymorphism databases | |||||||||||||
| DMDM | 60390956. | ||||||||||||
Proteomic databases | |||||||||||||
| PaxDb | Q96GD3. | ||||||||||||
| PRIDE | Q96GD3. | ||||||||||||
Protocols and materials databases | |||||||||||||
| DNASU | 22955. | ||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000326197; ENSP00000318094; ENSG00000010803. ENST00000337495; ENSP00000337352; ENSG00000010803. ENST00000361191; ENSP00000354656; ENSG00000010803. ENST00000361705; ENSP00000354996; ENSG00000010803. ENST00000372595; ENSP00000361676; ENSG00000010803. ENST00000372596; ENSP00000361677; ENSG00000010803. ENST00000372597; ENSP00000361678; ENSG00000010803. ENST00000397171; ENSP00000380356; ENSG00000010803. ENST00000402904; ENSP00000386079; ENSG00000010803. ENST00000456518; ENSP00000403974; ENSG00000010803. | ||||||||||||
| GeneID | 22955. | ||||||||||||
| KEGG | hsa:22955. | ||||||||||||
| UCSC | uc001cgo.3. human. uc001cgq.3. human. uc001cgr.3. human. uc001cgs.3. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 22955. | ||||||||||||
| GeneCards | GC01M041527. | ||||||||||||
| HGNC | HGNC:19003. SCMH1. | ||||||||||||
| HPA | HPA053292. | ||||||||||||
| neXtProt | NX_Q96GD3. | ||||||||||||
| PharmGKB | PA134870272. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | NOG315447. | ||||||||||||
| HOGENOM | HOG000236280. | ||||||||||||
| HOVERGEN | HBG056406. | ||||||||||||
| InParanoid | Q96GD3. | ||||||||||||
| KO | K11461. | ||||||||||||
| OMA | TATEYSH. | ||||||||||||
| PhylomeDB | Q96GD3. | ||||||||||||
Gene expression databases | |||||||||||||
| Bgee | Q96GD3. | ||||||||||||
| CleanEx | HS_SCMH1. | ||||||||||||
| Genevestigator | Q96GD3. | ||||||||||||
| GermOnline | ENSG00000010803. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| Gene3D | 1.10.150.50. 1 hit. | ||||||||||||
| InterPro | IPR021987. DUF3588. IPR004092. Mbt. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. [Graphical view] | ||||||||||||
| Pfam | PF12140. DUF3588. 1 hit. PF02820. MBT. 2 hits. PF00536. SAM_1. 1 hit. [Graphical view] | ||||||||||||
| SMART | SM00561. MBT. 2 hits. SM00454. SAM. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF47769. SAM_homology. 1 hit. | ||||||||||||
| PROSITE | PS51079. MBT. 2 hits. PS50105. SAM_DOMAIN. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| EvolutionaryTrace | Q96GD3. | ||||||||||||
| GenomeRNAi | 22955. | ||||||||||||
| NextBio | 43747. | ||||||||||||
Entry information
| Entry name | SCMH1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96GD3 Secondary accession number(s): B4DRQ8 Q9UKM6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
