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Protein

Shieldin complex subunit 2

Gene

SHLD2

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

Functioni

Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). During G1 and S phase of the cell cycle, the complex functions downstream of TP53BP1 to promote non-homologous end joining (NHEJ) and suppress DNA end resection. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres.1 Publication

Miscellaneous

In BRCA1-deficient cells, function of the shieldin complex is necessary for sensitivity to the PARP inhibitor olaparib.1 Publication

GO - Biological processi

  • DNA repair Source: UniProtKB-KW
  • negative regulation of double-strand break repair via homologous recombination Source: UniProtKB
  • positive regulation of double-strand break repair via nonhomologous end joining Source: UniProtKB
  • positive regulation of isotype switching Source: UniProtKB

Keywordsi

Biological processDNA damage, DNA repair

Names & Taxonomyi

Protein namesi
Recommended name:
Shieldin complex subunit 2Imported
Alternative name(s):
Protein FAM35ACurated
RINN1-REV7-interacting novel NHEJ regulator 21 Publication
Gene namesi
Name:SHLD21 Publication
Synonyms:FAM35AImported, RINN21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000122376.11
HGNCiHGNC:28773 SHLD2
neXtProtiNX_Q86V20

Subcellular locationi

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi6 – 11Missing : Fails to interact with SHLD3 or MAD2L2. 1 Publication6

Organism-specific databases

OpenTargetsiENSG00000122376
PharmGKBiPA134926879

Polymorphism and mutation databases

BioMutaiFAM35A
DMDMi74750445

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871611 – 835Shieldin complex subunit 2Add BLAST835

Proteomic databases

MaxQBiQ86V20
PaxDbiQ86V20
PeptideAtlasiQ86V20
PRIDEiQ86V20
ProteomicsDBi69948
69949 [Q86V20-2]

PTM databases

iPTMnetiQ86V20
PhosphoSitePlusiQ86V20

Expressioni

Gene expression databases

BgeeiENSG00000122376
CleanExiHS_FAM35A
ExpressionAtlasiQ86V20 baseline and differential
GenevisibleiQ86V20 HS

Organism-specific databases

HPAiHPA036582

Interactioni

Subunit structurei

Component of the shieldin complex, consisting of SHLD1, SHLD2, SHLD3 and MAD2L2/REV7. Within the complex, SHLD2 forms a scaffold which interacts with a SHLD3-MAD2L2 subcomplex via its N-terminus, and with SHLD1 via its C-terminus.1 Publication

Protein-protein interaction databases

BioGridi120024, 4 interactors
IntActiQ86V20, 2 interactors

Structurei

3D structure databases

ProteinModelPortaliQ86V20
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 60Sufficient for interaction with SHLD3 and MAD2L21 PublicationAdd BLAST60
Regioni652 – 822Mediates interaction with SHLD11 PublicationAdd BLAST171

Sequence similaritiesi

Belongs to the FAM35 family.Curated

Phylogenomic databases

eggNOGiENOG410IJB7 Eukaryota
ENOG4111M58 LUCA
GeneTreeiENSGT00390000003133
HOGENOMiHOG000112473
HOVERGENiHBG081505
InParanoidiQ86V20
OMAiSYPLQQD
OrthoDBiEOG091G02V7
PhylomeDBiQ86V20
TreeFamiTF332107

Family and domain databases

InterProiView protein in InterPro
IPR029715 FAM35A
IPR031589 FAM35A_C
PANTHERiPTHR14495 PTHR14495, 2 hits
PfamiView protein in Pfam
PF15793 FAM35_C, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86V20-1) [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
MSGGSQVHIF WGAPIAPLKI TVSEDTASLM SVADPWKKIQ LLYSQHSLYL
60 70 80 90 100
KDEKQHKNLE NYKVPESIGS PDLSGHFLAN CMNRHVHVKD DFVRSVSETQ
110 120 130 140 150
NIESQKIHSS RLSDITSSNM QICGFKSTVP HFTEEEKYQK LLSENKIRDE
160 170 180 190 200
QPKHQPDICG KNFNTNLFQL GHKCAAVLDL VCSTEKINIG PEVVQRECVP
210 220 230 240 250
TEYHEIQNQC LGLFSSNAVD KSRSEAAVRK VSDLKISTDT EFLSIITSSQ
260 270 280 290 300
VAFLAQKKDK RRSPVNKGNV NMETEPKASY GEIRIPEENS IQLDGFTEAY
310 320 330 340 350
ESGQNQAYSL ELFSPVCPKT ENSRIHINSD KGLEEHTGSQ ELFSSEDELP
360 370 380 390 400
PNEIRIELCS SGILCSQLNT FHKSAIKRSC TSEDKVGQSE ALSRVLQVAK
410 420 430 440 450
KMKLISNGGD SAVEMDRRNV SEFKSIKKTS LIKNCDSKSQ KYNCLVMVLS
460 470 480 490 500
PCHVKEINIK FGPNSGSKVP LATVTVIDQS ETKKKVFLWR TAAFWAFTVF
510 520 530 540 550
LGDIILLTDV VIHEDQWIGE TVLQSTFSSQ LLNLGSYSSI QPEEYSSVVS
560 570 580 590 600
EVVLQDLLAY VSSKHSYLRD LPPRQPQRVN SIDFVELEHL QPDVLVHAVL
610 620 630 640 650
RVVDFTILTE AVYSYRGQKQ KKVMLTVEQA QDQHYALVLW GPGAAWYPQL
660 670 680 690 700
QRKKGVVLIK AQISELAFPI TASQKIALNA HSSLKSIFSS LPNIVYTGCA
710 720 730 740 750
KCGLELETDE NRIYKQCFSC LPFTMKKIYY RPALMTAIDG RHDVCIRVES
760 770 780 790 800
KLIEKILLNI SADCLNRVIV PSSEITYGMV VADLFHSLLA VSAEPCVLKI
810 820 830
QSLFVLDENS YPLQQDFSLL DFYPDIVKHG ANARL
Length:835
Mass (Da):93,705
Last modified:June 1, 2003 - v1
Checksum:iBD6D1D1E58C2605D
GO
Isoform 2 (identifier: Q86V20-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     654-654: K → KGYIWEFKYLFVQCNYTLENLELHTTPWSSCECLFDDDIRAITFKAKFQKSAPSFVKISDLATHLEDKCS

Note: No experimental confirmation available.
Show »
Length:904
Mass (Da):101,774
Checksum:i30C5C6575CF199BC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti529 – 532SQLL → PRAI in AAD20041 (Ref. 4) Curated4
Sequence conflicti723F → L in BAB14342 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053997132F → L. Corresponds to variant dbSNP:rs3129520Ensembl.1
Natural variantiVAR_053998550S → C. Corresponds to variant dbSNP:rs11202365Ensembl.1
Natural variantiVAR_053999747R → H. Corresponds to variant dbSNP:rs11816168Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016165654K → KGYIWEFKYLFVQCNYTLEN LELHTTPWSSCECLFDDDIR AITFKAKFQKSAPSFVKISD LATHLEDKCS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022978 mRNA Translation: BAB14342.1
AL645992 Genomic DNA No translation available.
BC051863 mRNA Translation: AAH51863.1
AF131775 mRNA Translation: AAD20041.1
CCDSiCCDS7383.1 [Q86V20-1]
CCDS81484.1 [Q86V20-2]
RefSeqiNP_001317041.1, NM_001330112.1 [Q86V20-2]
NP_061927.2, NM_019054.2 [Q86V20-1]
UniGeneiHs.500419

Genome annotation databases

EnsembliENST00000298784; ENSP00000298784; ENSG00000122376 [Q86V20-1]
ENST00000298786; ENSP00000298786; ENSG00000122376 [Q86V20-2]
GeneIDi54537
KEGGihsa:54537
UCSCiuc001kei.5 human [Q86V20-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSHLD2_HUMAN
AccessioniPrimary (citable) accession number: Q86V20
Secondary accession number(s): O95885, Q9H991
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: June 1, 2003
Last modified: July 18, 2018
This is version 119 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 10
    Human chromosome 10: 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

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