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Q8N228

- SCML4_HUMAN

UniProt

Q8N228 - SCML4_HUMAN

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Protein

Sex comb on midleg-like protein 4

Gene

SCML4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

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).By similarity

GO - Molecular functioni

  1. DNA binding Source: InterPro

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Sex comb on midleg-like protein 4
Gene namesi
Name:SCML4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21397. SCML4.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134946179.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 414414Sex comb on midleg-like protein 4PRO_0000337171Add
BLAST

Proteomic databases

PaxDbiQ8N228.
PRIDEiQ8N228.

PTM databases

PhosphoSiteiQ8N228.

Expressioni

Gene expression databases

BgeeiQ8N228.
CleanExiHS_SCML4.
ExpressionAtlasiQ8N228. baseline and differential.
GenevestigatoriQ8N228.

Interactioni

Protein-protein interaction databases

BioGridi129164. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ8N228.
SMRiQ8N228. Positions 95-207, 343-409.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini288 – 35467SAMAdd
BLAST

Sequence similaritiesi

Belongs to the SCM family.Curated

Phylogenomic databases

eggNOGiNOG268239.
GeneTreeiENSGT00760000119024.
HOVERGENiHBG056406.
InParanoidiQ8N228.
KOiK11466.
OMAiMVMKYLG.
OrthoDBiEOG73BVC2.
PhylomeDBiQ8N228.
TreeFamiTF106488.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR017956. AT_hook_DNA-bd_motif.
IPR021987. DUF3588.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF12140. DUF3588. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00384. AT_hook. 1 hit.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N228-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MQSQRIPGRK RGRPSLHSTP MKMAVHNLYS ASAGSLPAVK IPKKRGRKPG
60 70 80 90 100
YKIKSRVLMT PLALSPPRST PEPDLSSIPQ DAATVPSLAA PQALTVCLYI
110 120 130 140 150
NKQANAGPYL ERKKVQQLPE HFGPERPSAV LQQAVQACID CAHQQKLVFS
160 170 180 190 200
LVKQGYGGEM VSVSASFDGK QHLRSLPVVN SIGYVLRFLA KLCRSLLCDD
210 220 230 240 250
LFSHQPFPRG CSASEKVQEK EEGRMESVKT VTTEEYLVNP VGMNRYSVDT
260 270 280 290 300
SASTFNHRGS LHPSSSLYCK RQNSGDSHLG GGPAATAGGP RTSPMSSGGP
310 320 330 340 350
SAPGLRPPAS SPKRNTTSLE GNRCASSPSQ DAQDARRPRS RNPSAWTVED
360 370 380 390 400
VVWFVKDADP QALGPHVELF RKHEIDGNAL LLLKSDMVMK YLGLKLGPAL
410
KLCYHIDKLK QAKF
Length:414
Mass (Da):45,023
Last modified:May 20, 2008 - v2
Checksum:i666A3DEAAF2A82D0
GO
Isoform 2 (identifier: Q8N228-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-58: Missing.

Show »
Length:356
Mass (Da):38,587
Checksum:iE66C0BDE66D227CE
GO
Isoform 3 (identifier: Q8N228-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:305
Mass (Da):32,976
Checksum:iE55703D2BE89FEA3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261R → Q.1 Publication
Corresponds to variant rs6934505 [ dbSNP | Ensembl ].
VAR_043669

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 5858Missing in isoform 2. 1 PublicationVSP_033943Add
BLAST
Alternative sequencei1 – 5858MQSQR…KSRVL → MPCQRTAWIGCDRQRTPPFH WREIKSRVL in isoform 3. 1 PublicationVSP_033944Add
BLAST
Alternative sequencei325 – 33410ASSPSQDAQD → GNVMHASASH in isoform 3. 1 PublicationVSP_033945
Alternative sequencei335 – 41480Missing in isoform 3. 1 PublicationVSP_033946Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS5060.2. [Q8N228-1]
CCDS69163.1. [Q8N228-2]
RefSeqiNP_001273337.1. NM_001286408.1. [Q8N228-2]
NP_932347.2. NM_198081.4. [Q8N228-1]
UniGeneiHs.486109.

Genome annotation databases

EnsembliENST00000369020; ENSP00000358016; ENSG00000146285. [Q8N228-1]
ENST00000369021; ENSP00000358017; ENSG00000146285. [Q8N228-3]
ENST00000369022; ENSP00000358018; ENSG00000146285. [Q8N228-2]
GeneIDi256380.
KEGGihsa:256380.
UCSCiuc003prz.4. human. [Q8N228-1]
uc003psa.3. human. [Q8N228-3]

Polymorphism databases

DMDMi189046183.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS5060.2. [Q8N228-1 ]
CCDS69163.1. [Q8N228-2 ]
RefSeqi NP_001273337.1. NM_001286408.1. [Q8N228-2 ]
NP_932347.2. NM_198081.4. [Q8N228-1 ]
UniGenei Hs.486109.

3D structure databases

ProteinModelPortali Q8N228.
SMRi Q8N228. Positions 95-207, 343-409.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129164. 3 interactions.

PTM databases

PhosphoSitei Q8N228.

Polymorphism databases

DMDMi 189046183.

Proteomic databases

PaxDbi Q8N228.
PRIDEi Q8N228.

Protocols and materials databases

DNASUi 256380.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369020 ; ENSP00000358016 ; ENSG00000146285 . [Q8N228-1 ]
ENST00000369021 ; ENSP00000358017 ; ENSG00000146285 . [Q8N228-3 ]
ENST00000369022 ; ENSP00000358018 ; ENSG00000146285 . [Q8N228-2 ]
GeneIDi 256380.
KEGGi hsa:256380.
UCSCi uc003prz.4. human. [Q8N228-1 ]
uc003psa.3. human. [Q8N228-3 ]

Organism-specific databases

CTDi 256380.
GeneCardsi GC06M108023.
HGNCi HGNC:21397. SCML4.
neXtProti NX_Q8N228.
PharmGKBi PA134946179.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG268239.
GeneTreei ENSGT00760000119024.
HOVERGENi HBG056406.
InParanoidi Q8N228.
KOi K11466.
OMAi MVMKYLG.
OrthoDBi EOG73BVC2.
PhylomeDBi Q8N228.
TreeFami TF106488.

Miscellaneous databases

GenomeRNAii 256380.
NextBioi 92801.
PROi Q8N228.

Gene expression databases

Bgeei Q8N228.
CleanExi HS_SCML4.
ExpressionAtlasi Q8N228. baseline and differential.
Genevestigatori Q8N228.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
InterProi IPR017956. AT_hook_DNA-bd_motif.
IPR021987. DUF3588.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF12140. DUF3588. 1 hit.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00384. AT_hook. 1 hit.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
ProtoNeti Search...

Publicationsi

  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. 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.

Entry informationi

Entry nameiSCML4_HUMAN
AccessioniPrimary (citable) accession number: Q8N228
Secondary accession number(s): B0QZ10
, B0QZ11, B7ZBX3, Q5JXD0, Q5T0T6, Q8IYY6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 20, 2008
Last modified: October 29, 2014
This is version 96 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3