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  2. RPA1 - replication protein A1 Gene

RPA1 - replication protein A1 Gene

Homo sapiens

Also known as HSSB; RF-A; RP-A; REPA1; RPA70; MST075; PFBMFT6

Gene ID: 6117 | Gene type: protein coding

About RPA1

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,830,005-1,900,082 (from NCBI)

This gene has 7 transcripts (splice variants), 268 orthologues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 21.6), ovary (RPKM 19.7) and 25 other tissues.

Summary

This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]

RPA1 Products(3)

mRNA Protein Name
NM_001355120.2 NP_001342049.1 replication protein A 70 kDa DNA-binding subunit isoform 2
NM_001355121.2 NP_001342050.1 replication protein A 70 kDa DNA-binding subunit isoform 3
NM_002945.5 NP_002936.1 replication protein A 70 kDa DNA-binding subunit isoform 1

RPA1 Protein Structure

Rep-A_N

Rep-A_N: Replication factor-A protein 1, N-terminal domain (5 - 104)

tRNA_anti-codon

tRNA_anti-codon: OB-fold nucleic acid binding domain (197 - 281)

Rep_fac-A_C

Rep_fac-A_C: Replication factor-A C terminal domain (461 - 606)

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  • 616 a.a.
Protein Preferred Names Protein Names

replication protein A 70 kDa DNA-binding subunit

MSTP075

Related Diseases

Diseases Alias
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6

PFBMFT6

Pulmonary Fibrosis, And/Or Bone Marrow Failure, Telomere-Related, 6

Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum

XPV

Xeroderma Pigmentosum Variant Type

Xeroderma Pigmentosum With Normal Dna Repair Rates

Photosensitivity With Defective Dna Synthesis

Xp

De Sanctis-Cacchione Syndrome

Desanctis-Cacchione Syndrome

Xeroderma Pigmentosa

Xerodermic Idiocy

Xeroderma Pigmentosum Variant

Xp - [Xeroderma Pigmentosum]

Atrophoderma Pigmentosum

Microphthalmia, Syndromic 10

MCOPS10

Moba

Microphthalmia And Brain Atrophy

Syndromic Microphthalmia 10

Microphthalmia-Brain Atrophy Syndrome

Microphthalmia Syndromic 10

Moba Syndrome

Syndromic Microphthalmia Type 10

Bloom Syndrome

BLM

Bs

Bls

Bloom-Torre-Machacek Syndrome

Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1

Mgrisce1

Congenital Telangiectatic Erythema

Congenital Telangiectatic Erythema Syndrome

Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability

Bloom'S Syndrome

Bsyn

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Alzheimer Disease 13

AD13

Alzheimer Disease-13

Alzheimer'S Disease 13

Alzheimer'S Disease 13, Late Onset

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

Haverhill Fever

Streptobacillosis

Streptobacillary Rat-Bite Fever

Streptobacillary Fever

Rat-Bite Fever Due To Streptobacillus Moniliformis

Erythema Arthriticum Epidemicum

Epidemic Arthritic Erythema

Xeroderma Pigmentosum, Complementation Group A

Xeroderma Pigmentosum Group A

Xp1

Xeroderma Pigmentosum, Group A

XPA

Xeroderma Pigmentosum I

Xeroderma Pigmentosum Complementation Group A

Xp Group A

Xp, Group A

Xeroderma Pigmentosum 1

Xeroderma Pigmentosum, Type 1

XP-A

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RPA1 RGD RGD:1307376
Felis catus RPA1 VGNC VGNC:64726
Canis familiaris RPA1 VGNC VGNC:45702
Bos taurus RPA1 VGNC VGNC:34094
Mus musculus RPA1 MGD MGI:1915525
Others RPA1 NCBI