Reviewed, UniProtKB/Swiss-Prot O75771 (RA51D_HUMAN)

Names and origin

Protein names

Recommended name:
    DNA repair protein RAD51 homolog 4
Alternative name(s):
    R51H3
    RAD51-like protein 3
    TRAD

Gene names

Name:	RAD51L3
Synonyms:	RAD51D

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	328 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. The BCDX2 complex binds single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. Ref.7 Ref.8
Subunit structure	Part of a BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3. Interacts with ZSWIM7. Ref.12
Subcellular location	Nucleus Probable.
Tissue specificity	Expressed in colon, prostate, spleen, testis, ovary, thymus and small intestine. Weakly expressed in leukocytes.
Sequence similarities	Belongs to the recA family. RAD51 subfamily.

Ontologies

Keywords
Biological process	DNA damage DNA recombination DNA repair
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	ATP-binding DNA-binding Nucleotide-binding
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	base-excision repair Inferred from electronic annotation. Source: InterPro reciprocal meiotic recombination Ref.2 Traceable author statement. Source: ProtInc
Cellular component	nucleus Ref.2 Traceable author statement. Source: ProtInc
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW DNA binding Ref.2 Traceable author statement. Source: ProtInc DNA-dependent ATPase activity Inferred from electronic annotation. Source: InterPro protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DCD	P81605	1	EBI-1055693,EBI-395625
RADIL	Q96JH8	1	EBI-1055693,EBI-744267

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75771-1)

Also known as: TRAD;

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.

Isoform 2 (identifier: O75771-2)

Also known as: TRAD-D1; D2;

The sequence of this isoform differs from the canonical sequence as follows:
     49-49: A → S
     50-328: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 3 (identifier: O75771-3)

Also known as: TRAD-D3;

The sequence of this isoform differs from the canonical sequence as follows:
     50-161: Missing.

Isoform 4 (identifier: O75771-4)

Also known as: TRAD-D4;

The sequence of this isoform differs from the canonical sequence as follows:
     116-160: Missing.

Isoform 5 (identifier: O75771-5)

Also known as: TRAD-D5;

The sequence of this isoform differs from the canonical sequence as follows:
     88-101: SLDKLLDAGLYTGE → RQKLSGGSRWCMHL

Isoform 6 (identifier: O75771-6)

Also known as: TRAD-D6; D7;

The sequence of this isoform differs from the canonical sequence as follows:
     88-118: SLDKLLDAGLYTGEVTEIVGGPGSGKTQVCL → RHGGRTQVGTWEDCSCLRSPQGDRGVGSGML
     119-328: Missing.

Isoform 7 (identifier: O75771-7)

Also known as: TRAD-D8;

The sequence of this isoform differs from the canonical sequence as follows:
     193-212: VTGSSGTVKVVVVDSVTAVV → DGIPEHLNHIPHCLHVHLPC
     213-328: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 328	328	DNA repair protein RAD51 homolog 4		PRO_0000122942
Regions
	Nucleotide binding	107 – 114	8	ATP Potential
	Compositional bias	200 – 205	6	Poly-Val
Natural variations
	Alternative sequence	49	1	A → S in isoform 2.		VSP_005558
	Alternative sequence	50 – 328	279	Missing in isoform 2.		VSP_005559
	Alternative sequence	50 – 161	112	Missing in isoform 3.		VSP_005560
	Alternative sequence	88 – 118	31	SLDKL…TQVCL → RHGGRTQVGTWEDCSCLRSP QGDRGVGSGML in isoform 6.		VSP_005563
	Alternative sequence	88 – 101	14	SLDKL…LYTGE → RQKLSGGSRWCMHL in isoform 5.		VSP_005562
	Alternative sequence	116 – 160	45	Missing in isoform 4.		VSP_005561
	Alternative sequence	119 – 328	210	Missing in isoform 6.		VSP_005564
	Alternative sequence	193 – 212	20	VTGSS…VTAVV → DGIPEHLNHIPHCLHVHLPC in isoform 7.		VSP_005565
	Alternative sequence	213 – 328	116	Missing in isoform 7.		VSP_005566
	Natural variant	24	1	R → S: dbSNP rs28363257.		VAR_020560
	Natural variant	165	1	R → Q: dbSNP rs4796033. Ref.4		VAR_020561
	Natural variant	225	1	A → T: dbSNP rs28363282. Ref.4		VAR_020562
	Natural variant	232	1	R → Q: dbSNP rs28363283.		VAR_020563
	Natural variant	233	1	E → G: dbSNP rs28363284. Ref.4		VAR_020564
Experimental info
	Sequence conflict	231	1	A → V in CAB55937. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (TRAD) [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 6038DA9356DF354A	FASTA	328	35,049
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAL VALRRVLLAQ 70 80 90 100 110 120 FSAFPVNGAD LYEELKTSTA ILSTGIGSLD KLLDAGLYTG EVTEIVGGPG SGKTQVCLCM 130 140 150 160 170 180 AANVAHGLQQ NVLYVDSNGG LTASRLLQLL QAKTQDEEEQ AEALRRIQVV HAFDIFQMLD 190 200 210 220 230 240 VLQELRGTVA QQVTGSSGTV KVVVVDSVTA VVSPLLGGQQ REGLALMMQL ARELKTLARD 250 260 270 280 290 300 LGMAVVVTNH ITRDRDSGRL KPALGRSWSF VPSTRILLDT IEGAGASGGR RMACLAKSSR 310 320 QPTGFQEMVD IGTWGTSEQS ATLQGDQT
	Isoform 2 (TRAD-D1) (D2). Checksum: 0B2D7DC5AF7D3D70	FASTA	49	5,387
	10 20 30 40 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKS
	Isoform 3 (TRAD-D3). Checksum: 34C5B25933759EC0	FASTA	216	23,317
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAE ALRRIQVVHA 70 80 90 100 110 120 FDIFQMLDVL QELRGTVAQQ VTGSSGTVKV VVVDSVTAVV SPLLGGQQRE GLALMMQLAR 130 140 150 160 170 180 ELKTLARDLG MAVVVTNHIT RDRDSGRLKP ALGRSWSFVP STRILLDTIE GAGASGGRRM 190 200 210 ACLAKSSRQP TGFQEMVDIG TWGTSEQSAT LQGDQT
	Isoform 4 (TRAD-D4). Checksum: 77A839A78449DC78	FASTA	283	30,194
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAL VALRRVLLAQ 70 80 90 100 110 120 FSAFPVNGAD LYEELKTSTA ILSTGIGSLD KLLDAGLYTG EVTEIVGGPG SGKTQAEALR 130 140 150 160 170 180 RIQVVHAFDI FQMLDVLQEL RGTVAQQVTG SSGTVKVVVV DSVTAVVSPL LGGQQREGLA 190 200 210 220 230 240 LMMQLARELK TLARDLGMAV VVTNHITRDR DSGRLKPALG RSWSFVPSTR ILLDTIEGAG 250 260 270 280 ASGGRRMACL AKSSRQPTGF QEMVDIGTWG TSEQSATLQG DQT
	Isoform 5 (TRAD-D5). Checksum: A494887924CB3834	FASTA	328	35,214
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAL VALRRVLLAQ 70 80 90 100 110 120 FSAFPVNGAD LYEELKTSTA ILSTGIGRQK LSGGSRWCMH LVTEIVGGPG SGKTQVCLCM 130 140 150 160 170 180 AANVAHGLQQ NVLYVDSNGG LTASRLLQLL QAKTQDEEEQ AEALRRIQVV HAFDIFQMLD 190 200 210 220 230 240 VLQELRGTVA QQVTGSSGTV KVVVVDSVTA VVSPLLGGQQ REGLALMMQL ARELKTLARD 250 260 270 280 290 300 LGMAVVVTNH ITRDRDSGRL KPALGRSWSF VPSTRILLDT IEGAGASGGR RMACLAKSSR 310 320 QPTGFQEMVD IGTWGTSEQS ATLQGDQT
	Isoform 6 (TRAD-D6) (D7). Checksum: E7A605D379835E0A	FASTA	118	12,675
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAL VALRRVLLAQ 70 80 90 100 110 FSAFPVNGAD LYEELKTSTA ILSTGIGRHG GRTQVGTWED CSCLRSPQGD RGVGSGML
	Isoform 7 (TRAD-D8). Checksum: E2554F3D42E92D58	FASTA	212	22,975
	10 20 30 40 50 60 MGVLRVGLCP GLTEEMIQLL RSHRIKTVVD LVSADLEEVA QKCGLSYKAL VALRRVLLAQ 70 80 90 100 110 120 FSAFPVNGAD LYEELKTSTA ILSTGIGSLD KLLDAGLYTG EVTEIVGGPG SGKTQVCLCM 130 140 150 160 170 180 AANVAHGLQQ NVLYVDSNGG LTASRLLQLL QAKTQDEEEQ AEALRRIQVV HAFDIFQMLD 190 200 210 VLQELRGTVA QQDGIPEHLN HIPHCLHVHL PC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of novel human and mouse genes of the recA/RAD51 recombination-repair gene family." Cartwright R., Dunn A.M., Simpson P.J., Tambini C.E., Thacker J. Nucleic Acids Res. 26:1653-1659(1998) [PubMed: 9512535] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"Identification, characterization, and genetic mapping of Rad51d, a new mouse and human RAD51/RecA-related gene." Pittman D.L., Weinberg L.R., Schimenti J.C. Genomics 49:103-111(1998) [PubMed: 9570954] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Multiple alternative transcripts of the human homologue of the mouse TRAD/R51H3/RAD51D gene, a member of the recA/RAD51 gene family." Kawabata M., Saeki K. Biochem. Biophys. Res. Commun. 257:156-162(1999) [PubMed: 10092526] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING (ISOFORMS 2; 3; 4; 5; 6 AND 7). Tissue: Brain.
[4]	NIEHS SNPs program Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-24; GLN-165; THR-225; GLN-232 AND GLY-233.
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 156-328. Tissue: Uterus.
[7]	"Identification and purification of two distinct complexes containing the five RAD51 paralogs." Masson J.Y., Tarsounas M.C., Stasiak A.Z., Stasiak A., Shah R., McIlwraith M.J., Benson F.E., West S.C. Genes Dev. 15:3296-3307(2001) [PubMed: 11751635] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH RAD51C; RAD51D AND XRCC2.
[8]	"Involvement of Rad51C in two distinct protein complexes of Rad51 paralogs in human cells." Liu N., Schild D., Thelen M.P., Thompson L.H. Nucleic Acids Res. 30:1009-1015(2002) [PubMed: 11842113] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH RAD51C; RAD51D AND XRCC2.
[9]	"RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51." Miller K.A., Yoshikawa D.M., McConnell I.R., Clark R., Schild D., Albala J.S. J. Biol. Chem. 277:8406-8411(2002) [PubMed: 11744692] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51C; RAD51D; XRCC2 AND XRCC3.
[10]	"Interactions involving the Rad51 paralogs Rad51C and XRCC3 in human cells." Wiese C., Collins D.W., Albala J.S., Thompson L.H., Kronenberg A., Schild D. Nucleic Acids Res. 30:1001-1008(2002) [PubMed: 11842112] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RAD51C; RAD51D AND XRCC2.
[11]	"An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[12]	"Sws1 is a conserved regulator of homologous recombination in eukaryotic cells." Martin V., Chahwan C., Gao H., Blais V., Wohlschlegel J., Yates J.R. III, McGowan C.H., Russell P. EMBO J. 25:2564-2574(2006) [PubMed: 16710300] [Abstract] Cited for: INTERACTION WITH ZSWIM7 AND XRCC2.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	Y15572 mRNA. Translation: CAA75681.1. AF034956 mRNA. Translation: AAC39719.1. AB013341 mRNA. Translation: BAA25914.1. AB016223 mRNA. Translation: BAA31747.1. AB016224 mRNA. Translation: BAA31748.1. AB016225 mRNA. Translation: BAA31749.1. AB018360 mRNA. Translation: BAA33779.1. AB018361 mRNA. Translation: BAA33780.1. AB018362 mRNA. Translation: BAA33781.1. AB018363 mRNA. Translation: BAA33782.1. AB020412 mRNA. Translation: BAA34690.1. AY623116 Genomic DNA. Translation: AAT38112.1. BC014422 mRNA. Translation: AAH14422.1. AL117459 mRNA. Translation: CAB55937.1.
IPI	IPI00216381. IPI00216382. IPI00216383. IPI00216384. IPI00216386. IPI00291454. IPI00411326.
PIR	T17247.
RefSeq	NP_001136043.1. NP_002869.3. NP_598332.1.
UniGene	Hs.631757
3D structure databases
ModBase	Search...
Protein-protein interaction databases
DIP	DIP:24265N.
IntAct	O75771. 2 interactions.
STRING	O75771.
PTM databases
PhosphoSite	O75771.
Proteomic databases
PRIDE	O75771.
Genome annotation databases
Ensembl	ENST00000345365; ENSP00000338790; ENSG00000185379; Homo sapiens. [Genome view]
GeneID	5892.
KEGG	hsa:5892.
NMPDR	fig|9606.3.peg.13507.
UCSC	uc002his.1. human.
Organism-specific databases
CTD	5892.
GeneCards	GC17M030450.
H-InvDB	HIX0013721.
HGNC	HGNC:9823. RAD51L3.
MIM	602954. gene.
PharmGKB	PA34179.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O75771.
OMA	QVCLCVA
Gene expression databases
ArrayExpress	O75771.
Bgee	O75771.
Genevestigator	O75771.
GermOnline	ENSG00000185379. Homo sapiens.
Family and domain databases
InterPro	IPR003593. ATPase_AAA+_core. IPR016467. DNA_recomb/repair_RecA-like. IPR020588. DNA_recomb_RecA/RadB_ATP-bd. IPR003265. HhH-GPD_domain. [Graphical view]
Pfam	PF00730. HhH-GPD. 1 hit. [Graphical view]
PIRSF	PIRSF005856. Rad51. 1 hit.
SMART	SM00382. AAA. 1 hit. [Graphical view]
PROSITE	PS50162. RECA_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	22920.
SOURCE	Search...

Entry information

Entry name

RA51D_HUMAN

Accession

Primary (citable) accession number: O75771
Secondary accession number(s): O43537 , O60355, O75196, O75847, O75848, O76073, O76085, O94908, Q9UFU5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	November 1, 1998
Last modified:	November 24, 2009
This is version 97 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.