Q8N228 (SCML4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sex comb on midleg-like protein 4

Gene names

Name:

SCML4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	414 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Repressor
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 414	414	Sex comb on midleg-like protein 4		PRO_0000337171
Regions
	Domain	288 – 354	67	SAM
Natural variations
	Alternative sequence	1 – 58	58	Missing in isoform 2.		VSP_033943
	Alternative sequence	1 – 58	58	MQSQR…KSRVL → MPCQRTAWIGCDRQRTPPFH WREIKSRVL in isoform 3.		VSP_033944
	Alternative sequence	325 – 334	10	ASSPSQDAQD → GNVMHASASH in isoform 3.		VSP_033945
	Alternative sequence	335 – 414	80	Missing in isoform 3.		VSP_033946
	Natural variant	126	1	R → Q. Ref.1 Corresponds to variant rs6934505 [ dbSNP | Ensembl ].		VAR_043669

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 20, 2008. Version 2. Checksum: 666A3DEAAF2A82D0	FASTA	414	45,023
	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
	Isoform 2 [UniParc]. Checksum: E66C0BDE66D227CE	FASTA	356	38,587
	10 20 30 40 50 60 MTPLALSPPR STPEPDLSSI PQDAATVPSL AAPQALTVCL YINKQANAGP YLERKKVQQL 70 80 90 100 110 120 PEHFGPERPS AVLQQAVQAC IDCAHQQKLV FSLVKQGYGG EMVSVSASFD GKQHLRSLPV 130 140 150 160 170 180 VNSIGYVLRF LAKLCRSLLC DDLFSHQPFP RGCSASEKVQ EKEEGRMESV KTVTTEEYLV 190 200 210 220 230 240 NPVGMNRYSV DTSASTFNHR GSLHPSSSLY CKRQNSGDSH LGGGPAATAG GPRTSPMSSG 250 260 270 280 290 300 GPSAPGLRPP ASSPKRNTTS LEGNRCASSP SQDAQDARRP RSRNPSAWTV EDVVWFVKDA 310 320 330 340 350 DPQALGPHVE LFRKHEIDGN ALLLLKSDMV MKYLGLKLGP ALKLCYHIDK LKQAKF
	Isoform 3 [UniParc]. Checksum: E55703D2BE89FEA3	FASTA	305	32,976
	10 20 30 40 50 60 MPCQRTAWIG CDRQRTPPFH WREIKSRVLM TPLALSPPRS TPEPDLSSIP QDAATVPSLA 70 80 90 100 110 120 APQALTVCLY INKQANAGPY LERKKVQQLP EHFGPERPSA VLQQAVQACI DCAHQQKLVF 130 140 150 160 170 180 SLVKQGYGGE MVSVSASFDG KQHLRSLPVV NSIGYVLRFL AKLCRSLLCD DLFSHQPFPR 190 200 210 220 230 240 GCSASEKVQE KEEGRMESVK TVTTEEYLVN PVGMNRYSVD TSASTFNHRG SLHPSSSLYC 250 260 270 280 290 300 KRQNSGDSHL GGGPAATAGG PRTSPMSSGG PSAPGLRPPA SSPKRNTTSL EGNRCGNVMH ASASH

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. , 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. , 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. , 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.
IPI	IPI00640008. IPI00646082. IPI00877639.
RefSeq	NP_932347.2. NM_198081.3.
UniGene	Hs.486109.
3D structure databases
HSSP	HSSP built from PDB template 1PK3 based on UniProtKB Q9VHA0.
ProteinModelPortal	Q8N228.
ModBase	Search...
PTM databases
PhosphoSite	Q8N228.
Polymorphism databases
DMDM	189046183.
Proteomic databases
PaxDb	Q8N228.
PRIDE	Q8N228.
Protocols and materials databases
DNASU	256380.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000369020; ENSP00000358016; ENSG00000146285. ENST00000369021; ENSP00000358017; ENSG00000146285. ENST00000369022; ENSP00000358018; ENSG00000146285.
GeneID	256380.
KEGG	hsa:256380.
UCSC	uc003prz.4. human. uc003psa.3. human.
Organism-specific databases
CTD	256380.
GeneCards	GC06M108071.
HGNC	HGNC:21397. SCML4.
neXtProt	NX_Q8N228.
PharmGKB	PA134946179.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG268239.
HOVERGEN	HBG056406.
InParanoid	Q8N228.
KO	K11466.
OMA	KPGYKLK.
OrthoDB	EOG4R23TX.
Gene expression databases
ArrayExpress	Q8N228.
Bgee	Q8N228.
CleanEx	HS_SCML4.
Genevestigator	Q8N228.
Family and domain databases
Gene3D	1.10.150.50. 1 hit.
InterPro	IPR017956. AT_hook_DNA-bd_motif. IPR021987. DUF3588. IPR001660. SAM. IPR013761. SAM/pointed. IPR021129. SAM_type1. [Graphical view]
Pfam	PF12140. DUF3588. 1 hit. PF00536. SAM_1. 1 hit. [Graphical view]
SMART	SM00384. AT_hook. 1 hit. SM00454. SAM. 1 hit. [Graphical view]
SUPFAM	SSF47769. SAM_homology. 1 hit.
PROSITE	PS50105. SAM_DOMAIN. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	256380.
NextBio	92801.

Entry information

Entry name

SCML4_HUMAN

Accession

Primary (citable) accession number: Q8N228
Secondary accession number(s): B0QZ10 , B0QZ11, B7ZBX3, Q5JXD0, Q5T0T6, Q8IYY6

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 20, 2008
Last sequence update:	May 20, 2008
Last modified:	May 1, 2013
This is version 83 of the entry and version 2 of the sequence. [Complete 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.