Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

MAU2 chromatid cohesion factor homolog

Gene

MAU2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with NIPBL/SCC2 which mediates the loading of the cohesin complex onto chromatin (PubMed:28167679, PubMed:22628566). Plays a role in sister chromatid cohesion and normal progression through prometaphase (PubMed:16802858, PubMed:16682347).4 Publications

GO - Molecular functioni

  • double-stranded DNA binding Source: GO_Central
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • cohesin loading Source: UniProtKB
  • maintenance of mitotic sister chromatid cohesion Source: UniProtKB

Keywordsi

Biological processCell cycle, Cell division, Chromosome partition, Mitosis

Enzyme and pathway databases

ReactomeiR-HSA-2470946 Cohesin Loading onto Chromatin

Names & Taxonomyi

Protein namesi
Recommended name:
MAU2 chromatid cohesion factor homolog
Short name:
MAU-2
Alternative name(s):
Cohesin loading complex subunit SCC4 homolog
Gene namesi
Name:MAU2
Synonyms:KIAA0892, SCC41 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000129933.20
HGNCiHGNC:29140 MAU2
MIMi614560 gene
neXtProtiNX_Q9Y6X3

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

Chromosome, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi23383
OpenTargetsiENSG00000129933
PharmGKBiPA134991458

Polymorphism and mutation databases

BioMutaiMAU2
DMDMi118597347

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002545481 – 613MAU2 chromatid cohesion factor homologAdd BLAST613

Proteomic databases

EPDiQ9Y6X3
PaxDbiQ9Y6X3
PeptideAtlasiQ9Y6X3
PRIDEiQ9Y6X3
ProteomicsDBi86811
86812 [Q9Y6X3-2]
86813 [Q9Y6X3-3]

PTM databases

iPTMnetiQ9Y6X3
PhosphoSitePlusiQ9Y6X3

Expressioni

Gene expression databases

BgeeiENSG00000129933 Expressed in 225 organ(s), highest expression level in metanephros
CleanExiHS_KIAA0892
ExpressionAtlasiQ9Y6X3 baseline and differential
GenevisibleiQ9Y6X3 HS

Organism-specific databases

HPAiHPA059897

Interactioni

Subunit structurei

Heterodimerizes with MAU2/SCC2 to form the cohesin loading complex (PubMed:16682347, PubMed:16802858, PubMed:21934712, PubMed:28167679, PubMed:22628566). The NIPBL-MAU2 heterodimer interacts with the SMC1A-SMC3 heterodimer and with the cohesin complex composed of SMC1A, SMC3, RAD21 and STAG1 (PubMed:22628566).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
NIPBLQ6KC797EBI-4395624,EBI-722767

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116959, 15 interactors
DIPiDIP-29196N
IntActiQ9Y6X3, 10 interactors
MINTiQ9Y6X3
STRINGi9606.ENSP00000376127

Structurei

3D structure databases

ProteinModelPortaliQ9Y6X3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati107 – 140TPR 1Add BLAST34
Repeati379 – 412TPR 2Add BLAST34
Repeati459 – 492TPR 3Add BLAST34
Repeati499 – 532TPR 4Add BLAST34

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 115Sufficient for interaction with NIPBLAdd BLAST115

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 22Ala-richAdd BLAST21

Sequence similaritiesi

Belongs to the SCC4/mau-2 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG2300 Eukaryota
ENOG410XSAK LUCA
GeneTreeiENSGT00390000012198
HOGENOMiHOG000008037
InParanoidiQ9Y6X3
KOiK11266
OMAiPPNIKKC
OrthoDBiEOG091G06A2
PhylomeDBiQ9Y6X3
TreeFamiTF105981

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR019440 MAU2
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR21394 PTHR21394, 1 hit
PfamiView protein in Pfam
PF10345 Cohesin_load, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 3 hits
SUPFAMiSSF48452 SSF48452, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y6X3-1) [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
MAAQAAAAAQ AAAAQAAQAE AADSWYLALL GFAEHFRTSS PPKIRLCVHC
60 70 80 90 100
LQAVFPFKPP QRIEARTHLQ LGSVLYHHTK NSEQARSHLE KAWLISQQIP
110 120 130 140 150
QFEDVKFEAA SLLSELYCQE NSVDAAKPLL RKAIQISQQT PYWHCRLLFQ
160 170 180 190 200
LAQLHTLEKD LVSACDLLGV GAEYARVVGS EYTRALFLLS KGMLLLMERK
210 220 230 240 250
LQEVHPLLTL CGQIVENWQG NPIQKESLRV FFLVLQVTHY LDAGQVKSVK
260 270 280 290 300
PCLKQLQQCI QTISTLHDDE ILPSNPADLF HWLPKEHMCV LVYLVTVMHS
310 320 330 340 350
MQAGYLEKAQ KYTDKALMQL EKLKMLDCSP ILSSFQVILL EHIIMCRLVT
360 370 380 390 400
GHKATALQEI SQVCQLCQQS PRLFSNHAAQ LHTLLGLYCV SVNCMDNAEA
410 420 430 440 450
QFTTALRLTN HQELWAFIVT NLASVYIREG NRHQEVLYSL LERINPDHSF
460 470 480 490 500
PVSSHCLRAA AFYVRGLFSF FQGRYNEAKR FLRETLKMSN AEDLNRLTAC
510 520 530 540 550
SLVLLGHIFY VLGNHRESNN MVVPAMQLAS KIPDMSVQLW SSALLRDLNK
560 570 580 590 600
ACGNAMDAHE AAQMHQNFSQ QLLQDHIEAC SLPEHNLITW TDGPPPVQFQ
610
AQNGPNTSLA SLL
Length:613
Mass (Da):69,082
Last modified:October 31, 2006 - v2
Checksum:i47E33F5CE6504047
GO
Isoform 2 (identifier: Q9Y6X3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-394: Missing.
     436-436: Missing.

Show »
Length:218
Mass (Da):24,654
Checksum:i39E7AFEC38D42D18
GO
Isoform 3 (identifier: Q9Y6X3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-424: Missing.
     425-437: VYIREGNRHQEVL → MQNGADWLFPPQL

Show »
Length:189
Mass (Da):21,268
Checksum:i9BCF3F0207863BAA
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
V9GZ52V9GZ52_HUMAN
MAU2 chromatid cohesion factor homo...
MAU2
235Annotation score:
V9GYS3V9GYS3_HUMAN
MAU2 chromatid cohesion factor homo...
MAU2
183Annotation score:

Sequence cautioni

The sequence BAA74915 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0730194 – 8Missing Found in a patient with CDLS1; unknown pathological significance; no effect on interaction with NIBPL. 1 Publication5

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0212231 – 424Missing in isoform 3. 1 PublicationAdd BLAST424
Alternative sequenceiVSP_0212241 – 394Missing in isoform 2. 2 PublicationsAdd BLAST394
Alternative sequenceiVSP_021225425 – 437VYIRE…HQEVL → MQNGADWLFPPQL in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_021226436Missing in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020699 mRNA Translation: BAA74915.1 Different initiation.
AK126227 mRNA Translation: BAC86497.1
AC022543 Genomic DNA No translation available.
BC010222 mRNA Translation: AAH10222.4
BC063863 mRNA No translation available.
AL110250 mRNA Translation: CAB53698.1
CCDSiCCDS32969.2 [Q9Y6X3-1]
PIRiT14778
RefSeqiNP_056144.3, NM_015329.3 [Q9Y6X3-1]
UniGeneiHs.654939
Hs.744479

Genome annotation databases

EnsembliENST00000262815; ENSP00000262815; ENSG00000129933 [Q9Y6X3-1]
GeneIDi23383
KEGGihsa:23383
UCSCiuc002nmk.5 human [Q9Y6X3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020699 mRNA Translation: BAA74915.1 Different initiation.
AK126227 mRNA Translation: BAC86497.1
AC022543 Genomic DNA No translation available.
BC010222 mRNA Translation: AAH10222.4
BC063863 mRNA No translation available.
AL110250 mRNA Translation: CAB53698.1
CCDSiCCDS32969.2 [Q9Y6X3-1]
PIRiT14778
RefSeqiNP_056144.3, NM_015329.3 [Q9Y6X3-1]
UniGeneiHs.654939
Hs.744479

3D structure databases

ProteinModelPortaliQ9Y6X3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116959, 15 interactors
DIPiDIP-29196N
IntActiQ9Y6X3, 10 interactors
MINTiQ9Y6X3
STRINGi9606.ENSP00000376127

PTM databases

iPTMnetiQ9Y6X3
PhosphoSitePlusiQ9Y6X3

Polymorphism and mutation databases

BioMutaiMAU2
DMDMi118597347

Proteomic databases

EPDiQ9Y6X3
PaxDbiQ9Y6X3
PeptideAtlasiQ9Y6X3
PRIDEiQ9Y6X3
ProteomicsDBi86811
86812 [Q9Y6X3-2]
86813 [Q9Y6X3-3]

Protocols and materials databases

DNASUi23383
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262815; ENSP00000262815; ENSG00000129933 [Q9Y6X3-1]
GeneIDi23383
KEGGihsa:23383
UCSCiuc002nmk.5 human [Q9Y6X3-1]

Organism-specific databases

CTDi23383
DisGeNETi23383
EuPathDBiHostDB:ENSG00000129933.20
GeneCardsiMAU2
HGNCiHGNC:29140 MAU2
HPAiHPA059897
MIMi614560 gene
neXtProtiNX_Q9Y6X3
OpenTargetsiENSG00000129933
PharmGKBiPA134991458
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2300 Eukaryota
ENOG410XSAK LUCA
GeneTreeiENSGT00390000012198
HOGENOMiHOG000008037
InParanoidiQ9Y6X3
KOiK11266
OMAiPPNIKKC
OrthoDBiEOG091G06A2
PhylomeDBiQ9Y6X3
TreeFamiTF105981

Enzyme and pathway databases

ReactomeiR-HSA-2470946 Cohesin Loading onto Chromatin

Miscellaneous databases

ChiTaRSiMAU2 human
GenomeRNAii23383
PROiPR:Q9Y6X3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000129933 Expressed in 225 organ(s), highest expression level in metanephros
CleanExiHS_KIAA0892
ExpressionAtlasiQ9Y6X3 baseline and differential
GenevisibleiQ9Y6X3 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR019440 MAU2
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR21394 PTHR21394, 1 hit
PfamiView protein in Pfam
PF10345 Cohesin_load, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 3 hits
SUPFAMiSSF48452 SSF48452, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiSCC4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6X3
Secondary accession number(s): Q66PT1
, Q6P3S7, Q6ZTT2, Q9UFX8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 7, 2018
This is version 134 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again