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Protein

Sex comb on midleg-like protein 1

Gene

SCML1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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. May be involved in spermatogenesis during sexual maturation (By similarity).By similarity

GO - Molecular functioni

  • DNA binding Source: ProtInc
  • DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  • anatomical structure morphogenesis Source: ProtInc
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Sex comb on midleg-like protein 1
Gene namesi
Name:SCML1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000047634.14
HGNCiHGNC:10580 SCML1
MIMi300227 gene
neXtProtiNX_Q9UN30

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000047634
PharmGKBiPA34998

Polymorphism and mutation databases

BioMutaiSCML1
DMDMi254763330

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000976271 – 329Sex comb on midleg-like protein 1Add BLAST329

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei138PhosphoserineCombined sources1
Modified residuei238PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UN30
PeptideAtlasiQ9UN30
PRIDEiQ9UN30

PTM databases

iPTMnetiQ9UN30
PhosphoSitePlusiQ9UN30

Expressioni

Tissue specificityi

Ubiquitous. Expressed in fetal and adult tissues.1 Publication

Gene expression databases

BgeeiENSG00000047634
CleanExiHS_SCML1
ExpressionAtlasiQ9UN30 baseline and differential
GenevisibleiQ9UN30 HS

Organism-specific databases

HPAiHPA035270
HPA035271
HPA061397

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RENBPP516064EBI-12137487,EBI-752022

Protein-protein interaction databases

BioGridi112227, 21 interactors
IntActiQ9UN30, 17 interactors

Structurei

3D structure databases

ProteinModelPortaliQ9UN30
SMRiQ9UN30
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini258 – 325SAMPROSITE-ProRule annotationAdd BLAST68

Sequence similaritiesi

Belongs to the SCM family.Curated

Phylogenomic databases

eggNOGiKOG3766 Eukaryota
ENOG410Y4AQ LUCA
GeneTreeiENSGT00840000130035
HOGENOMiHOG000036073
HOVERGENiHBG094812
InParanoidiQ9UN30
KOiK11464
OMAiYSPTLPV
OrthoDBiEOG091G0FBX
PhylomeDBiQ9UN30

Family and domain databases

InterProiView protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
PfamiView protein in Pfam
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 3 (identifier: Q9UN30-3) [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
MMSNSSSEID VIKTRIPTYD EDDNTILYAY ETKPEFVNKE PNIVSDASCN
60 70 80 90 100
TEEQLKTVDD VLIHCQVIYD ALQNLDKKID VIRRKVSKIQ RFHARSLWTN
110 120 130 140 150
HKRYGYKKHS YRLVKKLKLQ KMKKNEVYET FSYPESYSPT LPVSRRENNS
160 170 180 190 200
PSNLPRPSFC MEEYQRAELE EDPILSRTPS PVHPSDFSEH NCQPYYASDG
210 220 230 240 250
ATYGSSSGLC LGNPRADSIH NTYSTDHASA APPSVTRSPV ENDGYIEEGS
260 270 280 290 300
ITKHPSTWSV EAVVLFLKQT DPLALCPLVD LFRSHEIDGK ALLLLTSDVL
310 320
LKHLGVKLGT AVKLCYYIDR LKQGKCFEN
Length:329
Mass (Da):37,447
Last modified:July 28, 2009 - v2
Checksum:i7B9D3679509DE56E
GO
Isoform 1 (identifier: Q9UN30-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-121: Missing.

Show »
Length:208
Mass (Da):23,131
Checksum:i372BAB0770E2204B
GO
Isoform 2 (identifier: Q9UN30-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-39: IKTRIPTYDEDDNTILYAYETKPEFVNK → Q

Show »
Length:302
Mass (Da):34,216
Checksum:i3D0B96B0865ABF96
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0378001 – 121Missing in isoform 1. 3 PublicationsAdd BLAST121
Alternative sequenceiVSP_03780112 – 39IKTRI…EFVNK → Q in isoform 2. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF160728 mRNA Translation: AAD47635.1
EU370780 Genomic DNA Translation: ABY68575.1
AK313993 mRNA Translation: BAG36705.1
Z93242 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98929.1
BC105028 mRNA Translation: AAI05029.1
BC026159 mRNA Translation: AAH26159.2
CCDSiCCDS14182.2 [Q9UN30-2]
CCDS35210.1 [Q9UN30-3]
CCDS35211.1 [Q9UN30-1]
RefSeqiNP_001032624.1, NM_001037535.2 [Q9UN30-1]
NP_001032625.1, NM_001037536.2 [Q9UN30-1]
NP_001032629.1, NM_001037540.2 [Q9UN30-3]
NP_006737.2, NM_006746.5 [Q9UN30-2]
XP_006724571.1, XM_006724508.3 [Q9UN30-3]
XP_016885212.1, XM_017029723.1 [Q9UN30-2]
UniGeneiHs.109655
Hs.658510

Genome annotation databases

EnsembliENST00000380041; ENSP00000369380; ENSG00000047634 [Q9UN30-3]
ENST00000380043; ENSP00000369382; ENSG00000047634 [Q9UN30-2]
ENST00000380045; ENSP00000369384; ENSG00000047634 [Q9UN30-1]
ENST00000398080; ENSP00000381154; ENSG00000047634 [Q9UN30-1]
GeneIDi6322
KEGGihsa:6322
UCSCiuc004cyb.5 human [Q9UN30-3]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSCML1_HUMAN
AccessioniPrimary (citable) accession number: Q9UN30
Secondary accession number(s): B0FZN6
, B2RA08, Q5H968, Q5H969
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: July 28, 2009
Last modified: May 23, 2018
This is version 140 of the entry and version 2 of the sequence. See 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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