KEGG T01001: 375748

Homo sapiens (human): 375748

Entry

375748            CDS       T01001

Symbol

ERCC6L2, BMFS2, C9orf102, HEBO, RAD26L, SR278

Name

(RefSeq) ERCC excision repair 6 like 2

K20098

DNA excision repair protein ERCC-6-like 2 [EC:5.6.2.-]

Organism

hsa Homo sapiens (human)

Disease

H02529

Bone marrow failure syndrome

Brite

KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03400 DNA repair and recombination proteins [BR:hsa03400]
    375748 (ERCC6L2)
DNA repair and recombination proteins [BR:hsa03400]
Eukaryotic type
  Other factors with a suspected DNA repair function
   Helicases
    375748 (ERCC6L2)

SSDB

Motif

Pfam:

SNF2-rel_dom Helicase_C ResIII DEAD HDA2-3 ERCC3_RAD25_C SWI2_SNF2 Helicase_C_2

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

UniProt:

Structure

LinkDB

Position

9:95875691..96041092

AA seq 701 aa
MDPSAPQPRAETSGKDIWHPGERCLAPSPDNGKLCEASIKSITVDENGKSFAVVLYADFQ
ERKIPLKQLQEVKFVKDCPRNLIFDDEDLEKPYFPNRKFPSSSVAFKLSDNGDSIPYTIN
RYLRDYQREGTRFLYGHYIHGGGCILGDDMGLGKTVQVISFLAAVLHKKGTREDIENNMP
EFLLRSMKKEPLSSTAKKMFLIVAPLSVLYNWKDELDTWGYFRVTVLHGNRKDNELIRVK
QRKCEIALTTYETLRLCLDELNSLEWSAVIVDEAHRIKNPKARVTEVMKALKCNVRIGLT
GTILQNNMKELWCVMDWAVPGLLGSGTYFKKQFSDPVEHGQRHTATKRELATGRKAMQRL
AKKMSGWFLRRTKTLIKDQLPKKEDRMVYCSLTDFQKAVYQTVLETEDVTLILQSSEPCT
CRSGQKRRNCCYKTNSHGETVKTLYLSYLTVLQKVANHVALLQAASTSKQQETLIKRICD
QVFSRFPDFVQKSKDAAFETLSDPKYSGKMKVLQQLLNHCRKNRDKVLLFSFSTKLLDVL
QQYCMASGLDYRRLDGSTKSEERLKIVKEFNSTQDVNICLVSTMAGGLGLNFVGANVVVL
FDPTWNPANDLQAIDRAYRIGQCRDVKVLRLISLGTVEEIMYLRQIYKQQLHCVVVGSEN
AKRYFEAVQGSKEHQGELFGIHNLFKFRSQGSCLTKDILEV

NT seq 2106 nt +upstreamnt +downstreamnt
atggatccgtcggcgccacagccccgcgcggaaacctcaggcaaagacatatggcatcca
ggagaaagatgtcttgccccttctccagataatggaaaactttgtgaagcaagcataaaa
tctatcacagtggatgaaaatggcaagtcatttgcagtcgtcttatatgcagattttcaa
gaaaggaaaatacctcttaaacagcttcaagaagtgaaatttgttaaagattgccctagg
aatcttatatttgatgatgaagatttagaaaaaccttatttcccaaaccgaaaatttcca
tcatcttctgttgcttttaaattatctgacaatggagactctattccttataccatcaat
aggtatttgagagactaccaaagagaaggaacccggtttctttatggacactacatccat
ggaggagggtgcattctgggtgatgacatgggacttggaaaaacagtacaggttatttca
tttctggctgcagttttgcataaaaagggaactcgtgaggatattgaaaataacatgcca
gagtttttactaagaagtatgaaaaaggaacccctttcttctacagcaaaaaagatgttc
ttaatagttgctcctctttctgtcctctacaactggaaggatgaattggacacctgggga
tatttcagagtcactgttttacatggaaacagaaaagataatgaattaattcgtgtaaag
cagaggaaatgtgaaattgctctaacaacttatgaaacactacgcttatgcctggatgaa
cttaacagtttggaatggtcagctgtcattgtggatgaagctcatagaatcaagaatcca
aaagctagagtaacagaagttatgaaagctttgaaatgtaatgtccgcattggcctcact
ggaaccatccttcagaacaacatgaaggaactgtggtgtgttatggactgggctgtgcca
ggccttttagggagtgggacctacttcaagaagcagttttctgacccagtagaacatggt
cagagacacacggcaacaaagagagaactagccactggccgaaaggccatgcaaagactt
gccaaaaagatgtctggctggtttctcaggcgcaccaagactcttatcaaggatcagttg
cctaagaaggaagaccggatggtgtattgttctttgacagatttccagaaagctgtctat
caaacagtgttagaaacagaggacgtgactttgatacttcaatcttctgagccttgtacc
tgtaggagtggccaaaaaaggagaaattgttgttataagaccaattctcatggtgaaaca
gtgaaaaccttgtatctcagttaccttacagtccttcagaaggtagctaaccatgtcgcg
ctactgcaagctgctagtacttccaaacaacaggaaacacttatcaaaaggatatgtgat
caggtattttccagattcccagattttgtgcagaaaagcaaagatgcagcctttgaaaca
ctttctgaccctaaatacagtggaaaaatgaaggtccttcagcagcttttaaatcattgc
aggaaaaacagagataaagttcttctcttttctttttccaccaagttgcttgacgtgcta
cagcagtactgtatggcgtctgggcttgattaccgacgacttgatggaagtacaaaatca
gaggaaagactcaagattgtaaaagagttcaacagtacacaagatgttaacatttgcctt
gtctctacaatggctggtggactaggcctcaattttgtcggtgccaatgttgttgtatta
tttgatcctacttggaatccagccaatgatcttcaagccattgacagagcatataggatt
ggacaatgtagagatgtcaaagtgcttaggctgatatccttgggaactgtggaggaaatc
atgtatttacgacagatatacaagcagcaacttcactgtgtggtggttggaagtgaaaat
gccaaacgatattttgaagcagttcaaggatctaaagagcatcaaggagagctttttggg
atccataacctcttcaaatttaggtcccaagggtcttgtcttacgaaggacatcctggag
gtgtga

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