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Q8N228 (SCML4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Sex comb on midleg-like protein 4
Gene names
Name:SCML4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length414 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development By similarity.

Subcellular location

Nucleus Probable.

Sequence similarities

Belongs to the SCM family.

Contains 1 SAM (sterile alpha motif) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionRepressor
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processregulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N228-1)

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.
Isoform 2 (identifier: Q8N228-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.
Isoform 3 (identifier: Q8N228-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: MQSQRIPGRK...PGYKIKSRVL → MPCQRTAWIGCDRQRTPPFHWREIKSRVL
     325-334: ASSPSQDAQD → GNVMHASASH
     335-414: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 414414Sex comb on midleg-like protein 4
PRO_0000337171

Regions

Domain288 – 35467SAM

Natural variations

Alternative sequence1 – 5858Missing in isoform 2.
VSP_033943
Alternative sequence1 – 5858MQSQR…KSRVL → MPCQRTAWIGCDRQRTPPFH WREIKSRVL in isoform 3.
VSP_033944
Alternative sequence325 – 33410ASSPSQDAQD → GNVMHASASH in isoform 3.
VSP_033945
Alternative sequence335 – 41480Missing in isoform 3.
VSP_033946
Natural variant1261R → Q. Ref.1
Corresponds to variant rs6934505 [ dbSNP | Ensembl ].
VAR_043669

Sequences

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

Last modified May 20, 2008. Version 2.
Checksum: 666A3DEAAF2A82D0

FASTA41445,023
        10         20         30         40         50         60 
MQSQRIPGRK RGRPSLHSTP MKMAVHNLYS ASAGSLPAVK IPKKRGRKPG YKIKSRVLMT 

        70         80         90        100        110        120 
PLALSPPRST PEPDLSSIPQ DAATVPSLAA PQALTVCLYI NKQANAGPYL ERKKVQQLPE 

       130        140        150        160        170        180 
HFGPERPSAV LQQAVQACID CAHQQKLVFS LVKQGYGGEM VSVSASFDGK QHLRSLPVVN 

       190        200        210        220        230        240 
SIGYVLRFLA KLCRSLLCDD LFSHQPFPRG CSASEKVQEK EEGRMESVKT VTTEEYLVNP 

       250        260        270        280        290        300 
VGMNRYSVDT SASTFNHRGS LHPSSSLYCK RQNSGDSHLG GGPAATAGGP RTSPMSSGGP 

       310        320        330        340        350        360 
SAPGLRPPAS SPKRNTTSLE GNRCASSPSQ DAQDARRPRS RNPSAWTVED VVWFVKDADP 

       370        380        390        400        410 
QALGPHVELF RKHEIDGNAL LLLKSDMVMK YLGLKLGPAL KLCYHIDKLK QAKF 

« Hide

Isoform 2 [UniParc].

Checksum: E66C0BDE66D227CE
Show »

FASTA35638,587
Isoform 3 [UniParc].

Checksum: E55703D2BE89FEA3
Show »

FASTA30532,976

References

[1]"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 2), VARIANT GLN-126.
Tissue: Thymus.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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] (ISOFORM 3).
Tissue: Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK093571 mRNA. Translation: BAC04198.1.
AL512592, AL096816 Genomic DNA. Translation: CAX12112.1.
AL096816 Genomic DNA. Translation: CAI42848.1.
AL096816, AL512592 Genomic DNA. Translation: CAQ08122.1.
AL096816, AL512592 Genomic DNA. Translation: CAQ08123.1.
AL512592, AL096816 Genomic DNA. Translation: CAI13632.2.
CH471051 Genomic DNA. Translation: EAW48394.1.
CH471051 Genomic DNA. Translation: EAW48395.1.
BC033286 mRNA. Translation: AAH33286.1.
CCDSCCDS5060.2. [Q8N228-1]
CCDS69163.1. [Q8N228-2]
RefSeqNP_001273337.1. NM_001286408.1. [Q8N228-2]
NP_932347.2. NM_198081.4. [Q8N228-1]
UniGeneHs.486109.

3D structure databases

ProteinModelPortalQ8N228.
SMRQ8N228. Positions 343-409.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8N228.

Polymorphism databases

DMDM189046183.

Proteomic databases

PaxDbQ8N228.
PRIDEQ8N228.

Protocols and materials databases

DNASU256380.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369020; ENSP00000358016; ENSG00000146285. [Q8N228-1]
ENST00000369021; ENSP00000358017; ENSG00000146285. [Q8N228-3]
ENST00000369022; ENSP00000358018; ENSG00000146285. [Q8N228-2]
GeneID256380.
KEGGhsa:256380.
UCSCuc003prz.4. human. [Q8N228-1]
uc003psa.3. human. [Q8N228-3]

Organism-specific databases

CTD256380.
GeneCardsGC06M108071.
HGNCHGNC:21397. SCML4.
neXtProtNX_Q8N228.
PharmGKBPA134946179.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268239.
HOVERGENHBG056406.
InParanoidQ8N228.
KOK11466.
OMAMVMKYLG.
OrthoDBEOG73BVC2.
PhylomeDBQ8N228.
TreeFamTF106488.

Gene expression databases

ArrayExpressQ8N228.
BgeeQ8N228.
CleanExHS_SCML4.
GenevestigatorQ8N228.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
InterProIPR017956. AT_hook_DNA-bd_motif.
IPR021987. DUF3588.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF12140. DUF3588. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00384. AT_hook. 1 hit.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi256380.
NextBio92801.
PROQ8N228.

Entry information

Entry nameSCML4_HUMAN
AccessionPrimary (citable) accession number: Q8N228
Secondary accession number(s): B0QZ10 expand/collapse secondary AC list , B0QZ11, B7ZBX3, Q5JXD0, Q5T0T6, Q8IYY6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: July 9, 2014
This is version 94 of the entry and version 2 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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM