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Protein

PWWP domain-containing protein MUM1L1

Gene

MUM1L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
PWWP domain-containing protein MUM1L1
Alternative name(s):
Mutated melanoma-associated antigen 1-like protein 1
Short name:
MUM1-like protein 1
Gene namesi
Name:MUM1L1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000157502.12.
HGNCiHGNC:26583. MUM1L1.

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi139221.
OpenTargetsiENSG00000157502.
PharmGKBiPA134880222.

Polymorphism and mutation databases

BioMutaiMUM1L1.
DMDMi74762184.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002578321 – 696PWWP domain-containing protein MUM1L1Add BLAST696

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei128PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ5H9M0.
PeptideAtlasiQ5H9M0.
PRIDEiQ5H9M0.

PTM databases

iPTMnetiQ5H9M0.
PhosphoSitePlusiQ5H9M0.

Expressioni

Gene expression databases

BgeeiENSG00000157502.
CleanExiHS_MUM1L1.
GenevisibleiQ5H9M0. HS.

Organism-specific databases

HPAiHPA000168.
HPA020464.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000338641.

Structurei

3D structure databases

ProteinModelPortaliQ5H9M0.
SMRiQ5H9M0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini392 – 453PWWPAdd BLAST62

Sequence similaritiesi

Belongs to the MUM1 family.Curated

Phylogenomic databases

eggNOGiENOG410IKQG. Eukaryota.
ENOG4111FZN. LUCA.
GeneTreeiENSGT00390000001700.
HOGENOMiHOG000232141.
HOVERGENiHBG054002.
InParanoidiQ5H9M0.
OMAiGMIVWFK.
OrthoDBiEOG091G02S3.
PhylomeDBiQ5H9M0.
TreeFamiTF328774.

Family and domain databases

CDDicd06080. MUM1_like. 1 hit.
InterProiView protein in InterPro
IPR035504. MUM1-like_PWWP.

Sequencei

Sequence statusi: Complete.

Q5H9M0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MESEYVLCNW KDQLWPAKVL SRSETSSNSK RKKAFSLEVQ ILSLDEKIKL
60 70 80 90 100
DSTETKILNK SQIEAIAASL GLQSEDSAPP TEETAYGRSL KVALGILNER
110 120 130 140 150
TNLSQASTSD EEEITMLSQN VPQKQSDSPP HKKYRKDEGD LPGCLEEREN
160 170 180 190 200
SACLLASSES DDSLYDDKSQ APTMVDTIPS EVETKSLQNS SWCETFPSLS
210 220 230 240 250
EDNDEKENKN KIDISAVMSV HSAVKEESAC VKDEKFAPPL SPLSSDMLIM
260 270 280 290 300
PKALKEESED TCLETLAVPS ECSAFSENIE DPGEGPSNPC LDTSQNQPSM
310 320 330 340 350
ESEMGAAACP GSCSRECEVS FSASNPVWDY SHLMSSERNF QRLDFEELEE
360 370 380 390 400
EGQASDKSLL PSRINLSLLD DDEEDEELPR FILHYETHPF ETGMIVWFKY
410 420 430 440 450
QKYPFWPAVI KSIRRKERKA SVLFVEANMN SEKKGIRVNF RRLKKFDCKE
460 470 480 490 500
KQMLVDKARE DYSESIDWCI SLICDYRVRI GCGSFTGSLL EYYAADISYP
510 520 530 540 550
VRKETKQDTF RNKFPKLHNE DAREPMAVTS QTKKMSFQKI LPDRMKAARD
560 570 580 590 600
RANKNLVDFI VNAKGTENHL LAIVNGTKGS RWLKSFLNAN RFTPCIETYF
610 620 630 640 650
EDEDQLDEVV KYLQEVCNQI DQIMPTWIKD DKIKFILEVL LPEAIICSIS
660 670 680 690
AVDGLDYEAA EAKYLKGPCL GYRERELFDA KIIYEKRRKA PTNEAH
Length:696
Mass (Da):79,040
Last modified:February 15, 2005 - v1
Checksum:i0B2D3256846FB291
GO

Sequence cautioni

The sequence AAH31229 differs from that shown. Reason: Frameshift at position 406.Curated
The sequence BAB71194 differs from that shown. Reason: Erroneous termination at position 638. Translated as Glu.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9N → D in BAB71194 (PubMed:14702039).Curated1
Sequence conflicti296N → D in BAC03529 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05777695G → D. Corresponds to variant dbSNP:rs12392298Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056478 mRNA. Translation: BAB71194.1. Sequence problems.
AK090835 mRNA. Translation: BAC03529.1.
Z68289 Genomic DNA. Translation: CAI41998.1.
CH471120 Genomic DNA. Translation: EAX02743.1.
CH471120 Genomic DNA. Translation: EAX02744.1.
BC031229 mRNA. Translation: AAH31229.1. Frameshift.
CCDSiCCDS55469.1.
RefSeqiNP_001164491.1. NM_001171020.1.
NP_689636.3. NM_152423.4.
XP_005262134.1. XM_005262077.2.
XP_011529158.1. XM_011530856.1.
XP_011529159.1. XM_011530857.1.
XP_016884758.1. XM_017029269.1.
UniGeneiHs.592221.

Genome annotation databases

EnsembliENST00000337685; ENSP00000338641; ENSG00000157502.
ENST00000357175; ENSP00000349699; ENSG00000157502.
ENST00000372552; ENSP00000361632; ENSG00000157502.
GeneIDi139221.
KEGGihsa:139221.
UCSCiuc004emf.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMUML1_HUMAN
AccessioniPrimary (citable) accession number: Q5H9M0
Secondary accession number(s): D3DUX2
, Q49AS5, Q8N2C0, Q96MT6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: February 15, 2005
Last modified: September 27, 2017
This is version 90 of the entry and version 1 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. 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