Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96GD3 (SCMH1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Polycomb protein SCMH1
Alternative name(s):
Sex comb on midleg homolog 1
Gene names
Name:SCMH1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length660 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 660660Polycomb protein SCMH1
PRO_0000114334

Regions

Repeat28 – 12699MBT 1
Repeat134 – 235102MBT 2
Domain593 – 65866SAM

Natural variations

Alternative sequence1 – 6161Missing in isoform 3 and isoform 5. Ref.1 Ref.4
VSP_051678
Alternative sequence1 – 4848MLVCY…VHCFK → M in isoform 4 and isoform 6. Ref.1
VSP_051677
Alternative sequence1 – 2424MLVCY…IMGSP → MQPNVIDWSDVRKHKYGHLS ESASQYQEAADILD in isoform 2. Ref.4
VSP_051676
Alternative sequence128 – 238111Missing in isoform 6.
VSP_043395
Alternative sequence550 – 57122Missing in isoform 2, isoform 4, isoform 5 and isoform 6. Ref.1 Ref.4
VSP_051679

Experimental info

Sequence conflict4631F → L Ref.3

Secondary structure

................................. 660
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 6544DD484DA8D037

FASTA66073,354
        10         20         30         40         50         60 
MLVCYSVLAC EILWDLPCSI MGSPLGHFTW DKYLKETCSV PAPVHCFKQS YTPPSNEFKI 

        70         80         90        100        110        120 
SMKLEAQDPR NTTSTCIATV VGLTGARLRL RLDGSDNKND FWRLVDSAEI QPIGNCEKNG 

       130        140        150        160        170        180 
GMLQPPLGFR LNASSWPMFL LKTLNGAEMA PIRIFHKEPP SPSHNFFKMG MKLEAVDRKN 

       190        200        210        220        230        240 
PHFICPATIG EVRGSEVLVT FDGWRGAFDY WCRFDSRDIF PVGWCSLTGD NLQPPGTKVV 

       250        260        270        280        290        300 
IPKNPYPASD VNTEKPSIHS STKTVLEHQP GQRGRKPGKK RGRTPKTLIS HPISAPSKTA 

       310        320        330        340        350        360 
EPLKFPKKRG PKPGSKRKPR TLLNPPPASP TTSTPEPDTS TVPQDAATIP SSAMQAPTVC 

       370        380        390        400        410        420 
IYLNKNGSTG PHLDKKKVQQ LPDHFGPARA SVVLQQAVQA CIDCAYHQKT VFSFLKQGHG 

       430        440        450        460        470        480 
GEVISAVFDR EQHTLNLPAV NSITYVLRFL EKLCHNLRSD NLFGNQPFTQ THLSLTAIEY 

       490        500        510        520        530        540 
SHSHDRYLPG ETFVLGNSLA RSLEPHSDSM DSASNPTNLV STSQRHRPLL SSCGLPPSTA 

       550        560        570        580        590        600 
SAVRRLCSRG VLKGSNERRD MESFWKLNRS PGSDRYLESR DASRLSGRDP SSWTVEDVMQ 

       610        620        630        640        650        660 
FVREADPQLG PHADLFRKHE IDGKALLLLR SDMMMKYMGL KLGPALKLSY HIDRLKQGKF 

« Hide

Isoform 2 [UniParc].

Checksum: 5DBA4803D9E8B3B5
Show »

FASTA64872,053
Isoform 3 [UniParc].

Checksum: AC9C5AB96BDF79E1
Show »

FASTA59966,459
Isoform 4 [UniParc].

Checksum: E5F43403878E53BA
Show »

FASTA59165,481
Isoform 5 [UniParc].

Checksum: 1EC4A9E8452B66F0
Show »

FASTA57763,870
Isoform 6 [UniParc].

Checksum: CCD341EBF6748EF5
Show »

FASTA48052,908

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., 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.
RefSeqNP_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.
XP_005270696.1. XM_005270639.1.
UniGeneHs.571874.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2P0KX-ray1.75A27-238[»]
ProteinModelPortalQ96GD3.
SMRQ96GD3. Positions 27-337, 590-655.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116609. 21 interactions.
IntActQ96GD3. 10 interactions.
MINTMINT-1422768.
STRING9606.ENSP00000318094.

PTM databases

PhosphoSiteQ96GD3.

Polymorphism databases

DMDM60390956.

Proteomic databases

PaxDbQ96GD3.
PRIDEQ96GD3.

Protocols and materials databases

DNASU22955.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326197; ENSP00000318094; ENSG00000010803. [Q96GD3-1]
ENST00000337495; ENSP00000337352; ENSG00000010803. [Q96GD3-2]
ENST00000361191; ENSP00000354656; ENSG00000010803. [Q96GD3-5]
ENST00000361705; ENSP00000354996; ENSG00000010803. [Q96GD3-4]
ENST00000372595; ENSP00000361676; ENSG00000010803. [Q96GD3-3]
ENST00000372596; ENSP00000361677; ENSG00000010803. [Q96GD3-5]
ENST00000372597; ENSP00000361678; ENSG00000010803. [Q96GD3-4]
ENST00000397171; ENSP00000380356; ENSG00000010803. [Q96GD3-5]
ENST00000402904; ENSP00000386079; ENSG00000010803. [Q96GD3-1]
ENST00000456518; ENSP00000403974; ENSG00000010803. [Q96GD3-6]
GeneID22955.
KEGGhsa:22955.
UCSCuc001cgo.3. human. [Q96GD3-1]
uc001cgq.3. human. [Q96GD3-4]
uc001cgr.3. human. [Q96GD3-5]
uc001cgs.3. human. [Q96GD3-2]
uc010ojr.2. human. [Q96GD3-6]

Organism-specific databases

CTD22955.
GeneCardsGC01M041527.
HGNCHGNC:19003. SCMH1.
HPAHPA048898.
HPA053292.
neXtProtNX_Q96GD3.
PharmGKBPA134870272.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315447.
HOGENOMHOG000236280.
HOVERGENHBG056406.
InParanoidQ96GD3.
KOK11461.
OMATPGYRPL.
OrthoDBEOG73BVC2.
PhylomeDBQ96GD3.
TreeFamTF106488.

Enzyme and pathway databases

ReactomeREACT_120956. Cellular responses to stress.

Gene expression databases

ArrayExpressQ96GD3.
BgeeQ96GD3.
CleanExHS_SCMH1.
GenevestigatorQ96GD3.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
InterProIPR021987. DUF3588.
IPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF12140. DUF3588. 1 hit.
PF02820. MBT. 2 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00561. MBT. 2 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS51079. MBT. 2 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ96GD3.
GeneWikiSCMH1.
GenomeRNAi22955.
NextBio43747.
PROQ96GD3.

Entry information

Entry nameSCMH1_HUMAN
AccessionPrimary (citable) accession number: Q96GD3
Secondary accession number(s): B4DRQ8 expand/collapse secondary AC list , Q5VT76, Q6IAJ4, Q8WU48, Q9UKM5, Q9UKM6
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2005
Last sequence update: December 1, 2001
Last modified: March 19, 2014
This is version 110 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM