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Protein

MAU2 chromatid cohesion factor homolog

Gene

MAU2

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

Functioni

Required for association of the cohesin complex with chromatin during interphase. Plays a role in sister chromatid cohesion and normal progression through prometaphase.2 Publications

GO - Molecular functioni

  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • cell division Source: UniProtKB-KW
  • maintenance of mitotic sister chromatid cohesion Source: UniProtKB
  • mitotic cell cycle Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Cell 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, SCC4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:29140. MAU2.

Subcellular locationi

GO - Cellular componenti

  • chromatin Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • nucleus Source: UniProtKB
  • SMC loading complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134991458.

Polymorphism and mutation databases

BioMutaiMAU2.
DMDMi118597347.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 613613MAU2 chromatid cohesion factor homologPRO_0000254548Add
BLAST

Proteomic databases

EPDiQ9Y6X3.
MaxQBiQ9Y6X3.
PaxDbiQ9Y6X3.
PRIDEiQ9Y6X3.

PTM databases

iPTMnetiQ9Y6X3.
PhosphoSiteiQ9Y6X3.

Expressioni

Gene expression databases

BgeeiQ9Y6X3.
CleanExiHS_KIAA0892.
ExpressionAtlasiQ9Y6X3. baseline and differential.
GenevisibleiQ9Y6X3. HS.

Organism-specific databases

HPAiHPA048223.

Interactioni

Subunit structurei

Interacts (via N-terminus) with NIPBL to form the cohesin loading complex.3 Publications

GO - Molecular functioni

  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi116959. 11 interactions.
DIPiDIP-29196N.
IntActiQ9Y6X3. 7 interactions.
MINTiMINT-2824314.
STRINGi9606.ENSP00000376127.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6X3.
SMRiQ9Y6X3. Positions 111-136, 148-174, 341-434, 461-487.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati107 – 14034TPR 1Add
BLAST
Repeati379 – 41234TPR 2Add
BLAST
Repeati459 – 49234TPR 3Add
BLAST
Repeati499 – 53234TPR 4Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 115115Sufficient for interaction with NIPBLAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 2221Ala-richAdd
BLAST

Sequence similaritiesi

Belongs to the SCC4/mau-2 family.Curated
Contains 4 TPR repeats.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG2300. Eukaryota.
ENOG410XSAK. LUCA.
GeneTreeiENSGT00390000012198.
HOGENOMiHOG000008037.
InParanoidiQ9Y6X3.
KOiK11266.
OMAiEKAWSIS.
OrthoDBiEOG7V49XZ.
PhylomeDBiQ9Y6X3.
TreeFamiTF105981.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR019440. MAU2.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR21394. PTHR21394. 1 hit.
PfamiPF10345. Cohesin_load. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

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

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

Sequence cautioni

The sequence BAA74915.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 85Missing Found in a patient with CDLS1; unknown pathological significance; no effect on interaction with NIBPL. 1 Publication
VAR_073019

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 424424Missing in isoform 3. 1 PublicationVSP_021223Add
BLAST
Alternative sequencei1 – 394394Missing in isoform 2. 2 PublicationsVSP_021224Add
BLAST
Alternative sequencei425 – 43713VYIRE…HQEVL → MQNGADWLFPPQL in isoform 3. 1 PublicationVSP_021225Add
BLAST
Alternative sequencei436 – 4361Missing in isoform 2. 2 PublicationsVSP_021226

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

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.
SMRiQ9Y6X3. Positions 111-136, 148-174, 341-434, 461-487.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116959. 11 interactions.
DIPiDIP-29196N.
IntActiQ9Y6X3. 7 interactions.
MINTiMINT-2824314.
STRINGi9606.ENSP00000376127.

PTM databases

iPTMnetiQ9Y6X3.
PhosphoSiteiQ9Y6X3.

Polymorphism and mutation databases

BioMutaiMAU2.
DMDMi118597347.

Proteomic databases

EPDiQ9Y6X3.
MaxQBiQ9Y6X3.
PaxDbiQ9Y6X3.
PRIDEiQ9Y6X3.

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.
GeneCardsiMAU2.
HGNCiHGNC:29140. MAU2.
HPAiHPA048223.
MIMi614560. gene.
neXtProtiNX_Q9Y6X3.
PharmGKBiPA134991458.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2300. Eukaryota.
ENOG410XSAK. LUCA.
GeneTreeiENSGT00390000012198.
HOGENOMiHOG000008037.
InParanoidiQ9Y6X3.
KOiK11266.
OMAiEKAWSIS.
OrthoDBiEOG7V49XZ.
PhylomeDBiQ9Y6X3.
TreeFamiTF105981.

Enzyme and pathway databases

ReactomeiR-HSA-2470946. Cohesin Loading onto Chromatin.

Miscellaneous databases

ChiTaRSiMAU2. human.
GenomeRNAii23383.
NextBioi45492.
PROiQ9Y6X3.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y6X3.
CleanExiHS_KIAA0892.
ExpressionAtlasiQ9Y6X3. baseline and differential.
GenevisibleiQ9Y6X3. HS.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
InterProiIPR019440. MAU2.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR21394. PTHR21394. 1 hit.
PfamiPF10345. Cohesin_load. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 3 hits.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 2 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "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 3).
    Tissue: Thymus.
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 393-613 (ISOFORM 1).
    Tissue: Choriocarcinoma and PNS.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-613 (ISOFORM 2).
    Tissue: Testis.
  6. Cited for: FUNCTION, INTERACTION WITH NIPBL, SUBCELLULAR LOCATION.
  7. "Human Scc4 is required for cohesin binding to chromatin, sister-chromatid cohesion, and mitotic progression."
    Watrin E., Schleiffer A., Tanaka K., Eisenhaber F., Nasmyth K., Peters J.M.
    Curr. Biol. 16:863-874(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NIPBL, SUBCELLULAR LOCATION.
  8. Cited for: INTERACTION WITH NIPBL, VARIANT 4-GLN--ALA-8 DEL, CHARACTERIZATION OF VARIANT 4-GLN--ALA-8 DEL.

Entry informationi

Entry nameiSCC4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6X3
Secondary accession number(s): Q66PT1
, Q6P3S7, Q6ZTT2, Q9UFX8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: May 11, 2016
This is version 116 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 19
    Human chromosome 19: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.