Details for: COL4A5
Associated with
Other Information
Genular Protein ID: 2185934490
Symbol: CO4A5_HUMAN
Name: Collagen alpha-5(IV) chain
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8120014
Title: Structure of the human type IV collagen COL4A5 gene.
PubMed ID: 8120014
PubMed ID: 15772651
PubMed ID: 1352287
Title: Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
PubMed ID: 1352287
PubMed ID: 2380186
Title: Complete primary structure of the triple-helical region and the carboxyl-terminal domain of a new type IV collagen chain, alpha 5(IV).
PubMed ID: 2380186
PubMed ID: 2004755
Title: Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.
PubMed ID: 2004755
PubMed ID: 1689491
Title: Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.
PubMed ID: 1689491
PubMed ID: 2339699
Title: Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.
PubMed ID: 2339699
PubMed ID: 8301933
Title: Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
PubMed ID: 8301933
DOI: 10.1038/ki.1993.384
PubMed ID: 7853788
Title: Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
PubMed ID: 7853788
DOI: 10.1038/ki.1994.399
PubMed ID: 9195222
Title: The clinical spectrum of type IV collagen mutations.
PubMed ID: 9195222
DOI: 10.1002/(sici)1098-1004(1997)9:6<477::aid-humu1>3.0.co;2-#
PubMed ID: 1672282
Title: Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
PubMed ID: 1672282
PubMed ID: 1376965
Title: Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
PubMed ID: 1376965
PubMed ID: 1363780
Title: De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
PubMed ID: 1363780
DOI: 10.1093/hmg/1.2.127
PubMed ID: 8406498
Title: Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
PubMed ID: 8406498
PubMed ID: 8356449
Title: Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
PubMed ID: 8356449
PubMed ID: 7599631
Title: Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
PubMed ID: 7599631
PubMed ID: 8651292
Title: A mutation causing Alport syndrome with tardive hearing loss is common in the western United States.
PubMed ID: 8651292
PubMed ID: 8651296
Title: X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
PubMed ID: 8651296
PubMed ID: 8940267
Title: Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
PubMed ID: 8940267
PubMed ID: 8829632
Title: Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
PubMed ID: 8829632
DOI: 10.1002/(sici)1098-1004(1996)7:2<149::aid-humu9>3.0.co;2-7
PubMed ID: 9150741
Title: Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
PubMed ID: 9150741
PubMed ID: 9452056
Title: Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
PubMed ID: 9452056
PubMed ID: 9848783
Title: High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
PubMed ID: 9848783
DOI: 10.1681/asn.v9122291
PubMed ID: 10561141
Title: Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
PubMed ID: 10561141
PubMed ID: 10563487
Title: Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
PubMed ID: 10563487
PubMed ID: 10094548
Title: Detection of mutations in COL4A5 in patients with Alport syndrome.
PubMed ID: 10094548
DOI: 10.1002/(sici)1098-1004(1999)13:2<124::aid-humu4>3.0.co;2-z
PubMed ID: 11004279
Title: Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
PubMed ID: 11004279
PubMed ID: 10862091
Title: Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
PubMed ID: 10862091
DOI: 10.1002/1098-1004(200006)15:6<579::aid-humu13>3.0.co;2-k
PubMed ID: 10684360
Title: Mutational analysis of COL4A5 gene in Korean Alport syndrome.
PubMed ID: 10684360
PubMed ID: 11223851
Title: Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
PubMed ID: 11223851
DOI: 10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co;2-w
PubMed ID: 12784310
PubMed ID: 24522658
Title: Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
PubMed ID: 24522658
Sequence Information:
- Length: 1685
- Mass: 161044
- Checksum: 4450A6762F12A626
- Sequence:
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLPG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP PGLDVPGPPG ERGSPGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGEPGLPG PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP GRPGLPGPEG PPGLPGNGGI KGEKGNPGQP GLPGLPGLKG DQGPPGLQGN PGRPGLNGMK GDPGLPGVPG FPGMKGPSGV PGSAGPEGEP GLIGPPGPPG LPGPSGQSII IKGDAGPPGI PGQPGLKGLP GPQGPQGLPG PTGPPGDPGR NGLPGFDGAG GRKGDPGLPG QPGTRGLDGP PGPDGLQGPP GPPGTSSVAH GFLITRHSQT TDAPQCPQGT LQVYEGFSLL YVQGNKRAHG QDLGTAGSCL RRFSTMPFMF CNINNVCNFA SRNDYSYWLS TPEPMPMSMQ PLKGQSIQPF ISRCAVCEAP AVVIAVHSQT IQIPHCPQGW DSLWIGYSFM MHTSAGAEGS GQALASPGSC LEEFRSAPFI ECHGRGTCNY YANSYSFWLA TVDVSDMFSK PQSETLKAGD LRTRISRCQV CMKRT
Genular Protein ID: 3043529338
Symbol: Q49AM6_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 15772651
Sequence Information:
- Length: 695
- Mass: 64324
- Checksum: 91FAB53FB30A3120
- Sequence:
MGPPGPPGFP GERGQKGDEG PPGISIPGPP GLDGQPGAPG LPGPPGPAGP HIPPSDEICE PGPPGPPGSP GDKGLQGEQG VKGDKGDTCF NCIGTGISGP PGQPGLPGLP GPPGSLGFPG QKGEKGQAGA TGPKGLPGIP GAPGAPGFPG SKGEPGDILT FPGMKGDKGE LGSPGAPGLP GLPGTPGQDG LPGLPGPKGE PGGITFKGER GPPGNPGLPG LPGNIGPMGP PGFGPPGPVG EKGIQGVAGN PGQPGIPGPK GDPGQTITQP GKPGLPGNPG RDGDVGLPGD PGLPGQPGLP GIPGSKGEPG IPGIGLPGPP GPKGFPGIPG PPGAPGTPGR IGLEGPPGPP GFPGPKGEPG FALPGPPGPP GLPGFKGALG PKGDRGFPGP PGPPGRTGLD GLPGPKGDVG PNGQPGPMGP PGLPGIGVQG PPGPPGIPGP IGQPGLHGIP GEKGDPGPPG LDVPGPPGER GSPGIPGAPG PIGPPGSPGL PGKAGASGFP GTKGEMGMMG PPGPPGPLGI PGRSGVPGLK GDDGLQGQPG LPGPTGEKGS KGEPGLPGPP GPMDPNLLGS KGEKGEPGLP GIPGVSGPKG YQGLPGDPGQ PGLSGQPGLP GPPGPKGNPG LPGQPGLIGP PGLKGTIGDM GFPGPQGVEG PPGPSGVPGQ PGSPGLPGQK GDKGDPGISS IGLPGLPGPK VIFGI
Genular Protein ID: 993533887
Symbol: A7MBN3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
Sequence Information:
- Length: 1691
- Mass: 161790
- Checksum: 8241484AE676D9AB
- Sequence:
MKLRGVSLAA GLFLLALSLW GQPAEAAACY GCSPGSKCDC SGIKGEKGER GFPGLEGHPG LPGFPGPEGP PGPRGQKGDD GIPGPPGPKG IRGPPGLPGF PGTPGLPGMP GHDGAPGPQG IPGCNGTKGE RGFPGSPGFP GLQGPPGPPG IPGMKGEPGS IIMSSLPGPK GNPGYPGPPG IQGLPGPTGI PGPIGPPGPP GLMGPPGPPG LPGPKGNMGL NFQGPKGEKG EQGLQGPPGP PGQISEQKRP IDVEFQKGDQ GLPGDRGPPG PPGIRGPPGP PGGEKGEKGE QGEPGKRGKP GKDGENGQPG IPGLPGDPGY PGEPGRDGEK GQKGDTGPPG PPGLVIPRPG TGITIGEKGN IGLPGLPGEK GERGFPGIQG PPGLPGPPGA AVMGPPGPPG FPGERGQKGD EGPPGISIPG PPGLDGQPGA PGLPGPPGPA GPHIPPSDEI CEPGPPGPPG SPGDKGLQGE QGVKGDKGDT CFNCIGTGIS GPPGQPGLPG LPGPPGSLGF PGQKGEKGQA GATGPKGLPG IPGAPGAPGF PGSKGEPGDI LTFPGMKGDK GELGSPGAPG LPGLPGTPGQ DGLPGLPGPK GEPGGITFKG ERGPPGNPGL PGLPGNIGPM GPPGFGPPGP VGEKGIQGVA GNPGQPGIPG PKGDPGQTIT QPGKPGLPGN PGRDGDVGLP GDPGLPGQPG LPGIPGSKGE PGIPGIGLHG PPGPKGFPGI PGPPGAPGTP GRIGLEGPPG PPGFPGPKGE PGFALPGPPG PPGLPGFKGA LGPKGDRGFP GPPGPPGRTG LDGLPGPKGD VGPNGQPGPM GPPGLPGIGV QGPPGPPGIP GPIGQPGLHG IPGEKGDPGP PGLDVPGPPG ERGSRGIPGA PGPIGPPGSP GLPGKAGASG FPGTKGEMGM MGPPGPPGPL GIPGRSGVPG LKGDDGLQGQ PGLPGPTGEK GSKGERGLPG PPGPMDPNLL GSKGEKGEPG LPGIPGVSGP KGYQGLPGDP GQPGLSGQPG LPGPPGPKGN PGLPGQPGLI GPPGLKGTIG DMGFPGPQGV EGPPGPSGVP GQPGSPGLPG QKGDKGDPGI SSIGLPGLPG PKGEPGLPGY PGNPGIKGSV GDPGLPGLPG TPGAKGQPGL PGFPGTPGPP GPKGISGPPG NPGLPGEPGP VGGGGHPGQP GPPGEKGKPG QDGIPGPAGQ KGEPGQPGFG NPGPPGLPGL SGQKGDGGLP GIPGNPGLPG PKGEPGFHGF PGVQGPPGPP GSPGPALEGP KGNPGPQGPP GRPGPTGFQG LPGPEGPPGL PGNGGIKGEK GNPGQPGLPG LPGLKGDQGP PGLQGNPGRP GLNGMKGDPG LPGVPGFPGM KGPSGVPGSA GPEGEPGLIG PPGPPGLPGP SGQSIIIKGD AGPPGIPGQP GLKGLPGPQG PQGLPGPTGP PGDPGRNGLP GFDGAGGRKG DPGLPGQPGT RGLDGPPGPD GLQGPPGPPG TSSVAHGFLI TRHSQTTDAP QCPQGTLQVY EGFSLLYVQG NKRAHGQDLG TAGSCLRRFS TMPFMFCNIN NVCNFASRND YSYWLSTPEP MPMSMQPLKG QSIQPFISRC AVCEAPAVVI AVHSQTIQIP HCPQGWDSLW IGYSFMMHTS AGAEGSGQAL ASPGSCLEEF RSAPFIECHG RGTCNYYANS YSFWLATVDV SDMFSKPQSE TLKAGDLRTR ISRCQVCMKR T
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.