KIAA1107 is a protein that in humans is encoded by the KIAA1107 gene. [3] KIAA1107 is a Serine-rich protein, whose expression was found to increase in white matter of Multiple Sclerosis brain lesions. [4] [5]

KIAA1107
Identifiers
AliasesKIAA1107
External IDsOMIM: 617945; MGI: 2445097; HomoloGene: 128318; GeneCards: KIAA1107; OMA:KIAA1107 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015237

NM_001007574
NM_001168557

RefSeq (protein)

NP_056052

NP_001007575
NP_001162029

Location (UCSC)n/an/a
PubMed search[1][2]
Wikidata
View/Edit HumanView/Edit Mouse

Gene

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General Information

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KIAA1107 is a protein encoding gene, located on chromosome 1 in Homo sapiens. Its exact location is at cytogenetic band 1p22.1, with the genomic location of 92,067,052 bp - 92,184,723 bp from pter, with 17,672 total bases. [6] The KIAA1107 gene contains nine known exons. [7]

Protein

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General Properties

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Uncharacterized Protein KIAA1107 is 1401 amino acids in length in the most common variant, isoform A, found in Homo sapiens. [7] The predicted molecular weight of isoform A in Homo sapiens is 149.6 kdal. [4]

Composition

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KIAA1107 has a higher frequency of Serine and Aspartate and a lower frequency of Tyrosine than in the average protein in Homo sapiens. Uncharacterized protein is composed of 7.5% Aspartate and 14.0% Serine, which constitutes it as a Serine-rich protein. This protein also consists of 0.7% Tyrosine, which is considered to be below average in human proteins. [4]

mRNA

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Isoforms

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Transcription of KIAA1107 produces 6 different mRNAs, with 4 alternatively spliced variants and 2 unspliced forms. Variant A is the most commonly occurring and longest variant of KIAA1107 in humans. [7] Variant A contains nine exons (1-9) present in their standard form. Variant B contains seven exons (3-9) present in standard form. Variant C-U contains one exon, which is an alternatively spliced variant of exon 8. Variant D contains five exons (1-4, 5a) with 1-4 occurring in their standard form and an alternative form of exon 5. Variant E contains three exons, which are alternatively spliced forms of exons 3, 4, and 5. Variant F-U contains one exon, which is an alternatively spliced form of exon 5a, which occurs in variant D. [7]

Conserved Domains

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There is a domain, DUF4596, present from 1311 - 1354 in KIAA1107. The function of this domain is unknown. [8]

Expression

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Tissue Expression

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Expression of KIAA1107 does not appear to be ubiquitous in Homo sapiens. KIAA1107 is found to be expressed mostly in the brain, with lower levels of expression occurring in the bladder, mammary gland, muscle, prostate, and testis. [9] Within the brain, KIAA1107 is expressed highest in the pineal gland, prefrontal cortex, cingulate cortex, and subthalamic nucleus. [10]

Disease Association

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KIAA1107 was found to be over expressed in brain white matter with Multiple Sclerosis brain lesions when compared to control white matter. The average non-diseased sample had negligible expression of KIAA1107, while in the diseased sample it was expressed higher than almost any other gene (95th-98th percentile of expression). [5]

Homology

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Orthologs

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Orthologs of KIAA1107 exist in most vertebrates. The most distant homolog of KIAA1107 was found in, a fish, the Amazon Molly. There were no homologs found for sharks and rays, which would suggest that KIAA1107 originated in fish. [11] There are no human paralogs for KIAA1107.

Genus & Species Common Name Accession Number

[11]

Sequence Length

[11]

Sequence Identity

[11]

Sequence Similarity

[11]

Homo sapiens Human NP_056052.2 1354 1354/1354 (100%) 1354/1354 (100%)
Pan paniscus Pygmy Chimpanzee XP_008958748.1 1559 1336/1354 (99%) 1344/1354 (99%)
Gorilla gorilla gorilla Gorilla XP_004026176 1353 1331/1354 (98%) 1340/1354 (98%)
Colobus angolensis palliatus Angola Colobus XP_011795361.1 1357 1285/1357 (95%) 1310/1357 (96%)
Mandrillus leucophaeus Drill XP_011829848.1 1356 1283/1356 (95%) 1306/1356 (96%)
Orcinus orca Killer Whale XP_004263069.1 1352 1111/1355 (82%) 1202/1355 (88%)
Felis catus Cat XP_003990349.2 1380 1101/1354(81%) 1195/1354 (88%)
Eptesicus fuscus Big Brown Bat XP_008152941.1 1334 1072/1355 (79%) 1176/1355 (86%)
Orycteropus afer afer Aardvark XP_007934238.1 1343 1058/1354 (78%) 1170/1354 (86%)
Ornithorhynchus anatinus Platypus XP_001507357.2 1366 733/1412 (52%) 929/1412 (65%)
Haliaeetus albicilla White-Tailed Eagle KFP95312 1411 731/1397 (67%) 936/1397 (67%)
Gekko japonicus Schlegel's Japanese Gecko XP_015276947.1 1779 728/1389 (52%) 922/1389 (66%)
Opisthocomus hoazin Hoatzin XP_009939466 1664 721/1398 (52%) 924/1398 (66%)
Nipponia nippon Crested Ibis KFR00383.1 1415 720/1398 (52%) 916/1398 (65%)
Fulmarus glacialis Northern Fulmar KFW06854 1410 721/1419 (51%) 921/1419 (64%)
Cuculus canorus Common Cuckoo KFO69590 1422 705/1422 (50%) 896/1422 (63%)
Anolis carolinensis Carolina Anole XP_008107452.1 1755 697/1389 (50%) 872/1389 (62%)
Python bivittatus Burmese Python XP_007430940.1 1568 679/1407 (48%) 886/1407 (62%)
Thamnophis sirtalis Common Garter Snake XP_013930049.1 1768 671/1390 (48%) 869/1390 (62%)
Xenopus tropicalis Western Clawed Frog XP_012617894.1 1530 516/1383 (37%) 738/1383 (53%)
Poecilia formosa Amazon Molly XP_007554759.1 1533 274/617 (44%) 351/617 (56%)
Nonothenia coriiceps Black Rockcod XP_010771069.1 990 243/592 (41%) 325/592 (54%)


References

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  1. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: KIAA1107". Retrieved 2016-05-08.
  4. ^ a b c "SAPS, SDSC Biology Workbench". Retrieved 2016-05-08.[permanent dead link]
  5. ^ a b "GEO Profiles KIAA1107 - Multiple Sclerosis: brain lesions". Retrieved 2016-04-01.
  6. ^ "GeneCards KIAA1107 Gene". Retrieved 2016-05-08.
  7. ^ a b c d "AceView KIAA1107". Retrieved 2016-05-08.
  8. ^ "NCBI Gene KIAA1107". Retrieved 2016-05-08.
  9. ^ "NCBI EST Profile KIAA1107". Retrieved 2016-05-08.
  10. ^ "BioGPS KIAA1107 Gene Expression Chart". Retrieved 2016-05-08.
  11. ^ a b c d e "NCBI Blast KIAA1107". Retrieved 2016-02-26.

Further reading

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