Q9UQR0 (SCML2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Sex comb on midleg-like protein 2

Gene names

Name:

SCML2

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	700 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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.
Tissue specificity	Highly expressed in placenta, thymus and testis. Detected at lower levels in brain, liver, skeletal muscle, pancreas and ovary. Ref.1
Sequence similarities	Belongs to the SCM family. Contains 2 MBT repeats. Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence AAH51913.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
Molecular function	Repressor
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	PcG protein complex Inferred from direct assay PubMed 21282530. Source: UniProtKB
Molecular_function	DNA binding Traceable author statement Ref.1. Source: ProtInc sequence-specific DNA binding transcription factor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UQR0-1)

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: Q9UQR0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-562: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 700

700

Sex comb on midleg-like protein 2

PRO_0000097628

Regions

Repeat

33 – 131

99

MBT 1

Repeat

139 – 240

102

MBT 2

Domain

631 – 700

70

SAM

Amino acid modifications

Modified residue

256

1

Phosphoserine Ref.7

Modified residue

267

1

Phosphoserine Ref.7

Modified residue

299

1

Phosphoserine Ref.7

Modified residue

300

1

Phosphoserine Ref.7

Modified residue

305

1

Phosphothreonine Ref.7

Modified residue

499

1

Phosphoserine Ref.7 Ref.8 Ref.9 Ref.11

Modified residue

503

1

Phosphothreonine Ref.7 Ref.9

Modified residue

511

1

Phosphoserine Ref.7 Ref.8 Ref.9 Ref.11

Modified residue

583

1

Phosphoserine Ref.7

Modified residue

590

1

Phosphoserine Ref.7 Ref.8 Ref.9 Ref.11

Modified residue

594

1

Phosphoserine Ref.7

Natural variations

Alternative sequence

1 – 562

562

Missing in isoform 2.

VSP_010277

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

700

Helix Strand Turn

Details...

Helix

35 – 42

8

Helix

49 – 51

3

Beta strand

52 – 54

3

Beta strand

68 – 73

6

Beta strand

76 – 89

14

Beta strand

92 – 97

6

Beta strand

102 – 104

3

Beta strand

106 – 109

4

Beta strand

115 – 117

3

Helix

120 – 123

4

Helix

138 – 140

3

Helix

141 – 149

9

Helix

157 – 159

3

Beta strand

177 – 181

5

Beta strand

189 – 198

10

Beta strand

201 – 206

6

Helix

211 – 213

3

Beta strand

215 – 218

4

Helix

229 – 233

5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 05E086D4928DEE73	FASTA	700	77,257
	10 20 30 40 50 60 MGQTVNEDSM DVKKENQEKT PQSSTSSVQR DDFHWEEYLK ETGSISAPSE CFRQSQIPPV 70 80 90 100 110 120 NDFKVGMKLE ARDPRNATSV CIATVIGITG ARLRLRLDGS DNRNDFWRLV DSPDIQPVGT 130 140 150 160 170 180 CEKEGDLLQP PLGYQMNTSS WPMFLLKTLN GSEMASATLF KKEPPKPPLN NFKVGMKLEA 190 200 210 220 230 240 IDKKNPYLIC PATIGDVKGD EVHITFDGWS GAFDYWCKYD SRDIFPAGWC RLTGDVLQPP 250 260 270 280 290 300 GTSVPIVKNI AKTESSPSEA SQHSMQSPQK TTLILPTQQV RRSSRIKPPG PTAVPKRSSS 310 320 330 340 350 360 VKNITPRKKG PNSGKKEKPL PVICSTSAAS LKSLTRDRGM LYKDVASGPC KIVMSTVCVY 370 380 390 400 410 420 VNKHGNFGPH LDPKRIQQLP DHFGPGPVNV VLRRIVQACV DCALETKTVF GYLKPDNRGG 430 440 450 460 470 480 EVITASFDGE THSIQLPPVN SASFALRFLE NFCHSLQCDN LLSSQPFSSS RGHTHSSAEH 490 500 510 520 530 540 DKNQSAKEDV TERQSTKRSP QQTVPYVVPL SPKLPKTKEY ASEGEPLFAG GSAIPKEENL 550 560 570 580 590 600 SEDSKSSSLN SGNYLNPACR NPMYIHTSVS QDFSRSVPGT TSSPLVGDIS PKSSPHEVKF 610 620 630 640 650 660 QMQRKSEAPS YIAVPDPSVL KQGFSKDPST WSVDEVIQFM KHTDPQISGP LADLFRQHEI 670 680 690 700 DGKALFLLKS DVMMKYMGLK LGPALKLCYY IEKLKEGKYS
	Isoform 2 [UniParc]. Checksum: A1FBA9624DF36ABE	FASTA	138	15,471
	10 20 30 40 50 60 MYIHTSVSQD FSRSVPGTTS SPLVGDISPK SSPHEVKFQM QRKSEAPSYI AVPDPSVLKQ 70 80 90 100 110 120 GFSKDPSTWS VDEVIQFMKH TDPQISGPLA DLFRQHEIDG KALFLLKSDV MMKYMGLKLG 130 PALKLCYYIE KLKEGKYS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of SCML2, a second human gene homologous to the Drosophila Sex comb on midleg (Scm): a new gene cluster on Xp22." Montini E., Buchner G., Spalluto C., Andolfi G., Caruso A., de Dunnen J.T., Trump D., Rocchi M., Ballabio A., Franco B. Genomics 58:65-72(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"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 2). Tissue: Testis.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 1). Tissue: Testis and Uterus.
[6]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-256; SER-267; SER-299; SER-300; THR-305; SER-499; THR-503; SER-511; SER-583; SER-590 AND SER-594, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-499; SER-511 AND SER-590, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-499; THR-503; SER-511 AND SER-590, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-499; SER-511 AND SER-590, MASS SPECTROMETRY.
[12]	"Crystal structure of the malignant brain tumor (MBT) repeats in sex comb on midleg-like 2 (SCML2)." Sathyamurthy A., Allen M.D., Murzin A.G., Bycroft M. J. Biol. Chem. 278:46968-46973(2003) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.78 ANGSTROMS) OF 33-243.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

Y18004 mRNA. Translation: CAB38943.1.
AL833937 mRNA. Translation: CAD38792.1.
AL096763, AL031007, Z93023 Genomic DNA. Translation: CAI42221.1.
AL031007, AL096763, Z93023 Genomic DNA. Translation: CAI43048.1.
Z93023, AL031007, AL096763 Genomic DNA. Translation: CAI43176.1.
BC040497 mRNA. No translation available.
CH471074 Genomic DNA. Translation: EAW98937.1.
BC051913 mRNA. Translation: AAH51913.1. Different initiation.
BC064617 mRNA. Translation: AAH64617.1.

IPI

IPI00328688.
IPI00472996.

RefSeq

NP_006080.1. NM_006089.2.

UniGene

Hs.495774.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1OI1	X-ray	1.78	A	24-243	[»]
2BIV	X-ray	1.70	A/B/C	1-243	[»]
2VYT	X-ray	1.90	A/B	24-243	[»]
4EDU	X-ray	2.58	A	29-243	[»]

ProteinModelPortal

Q9UQR0.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UQR0. 2 interactions.

STRING

9606.ENSP00000251900.

PTM databases

PhosphoSite

Q9UQR0.

Polymorphism databases

DMDM

47117338.

Proteomic databases

PaxDb

Q9UQR0.

PeptideAtlas

Q9UQR0.

PRIDE

Q9UQR0.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000251900; ENSP00000251900; ENSG00000102098.

GeneID

10389.

KEGG

hsa:10389.

UCSC

uc004cyl.2. human.

Organism-specific databases

CTD

10389.

GeneCards

GC0XM018167.

HGNC

HGNC:10581. SCML2.

HPA

HPA001662.

MIM

300208. gene.

neXtProt

NX_Q9UQR0.

PharmGKB

PA34999.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG315447.

HOGENOM

HOG000236280.

HOVERGEN

HBG056406.

InParanoid

Q9UQR0.

KO

K11465.

OMA

NGSEMAS.

OrthoDB

EOG4G7BZ2.

PhylomeDB

Q9UQR0.

Gene expression databases

ArrayExpress

Q9UQR0.

Bgee

Q9UQR0.

CleanEx

HS_SCML2.

Genevestigator

Q9UQR0.

GermOnline

ENSG00000102098. 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. False negative.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9UQR0.

GenomeRNAi

10389.

NextBio

39356.

SOURCE

Search...

Entry information

Entry name

SCML2_HUMAN

Accession

Primary (citable) accession number: Q9UQR0
Secondary accession number(s): Q5JXE6 , Q86U98, Q8IWD0, Q8NDP2, Q9UGC5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2004
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 111 of the entry and version 1 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.